The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_000314.7(PTEN):c.802-51_802-14del
CA338721
220416 (ClinVar)
Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 0ac92ea4-6700-459b-b067-82f87dddb118
Approved on: 2020-03-23
Published on: 2020-03-25
HGVS expressions
NM_000314.7:c.802-51_802-14del
NM_000314.7(PTEN):c.802-51_802-14del
NC_000010.11:g.87960843_87960880del
CM000672.2:g.87960843_87960880del
NC_000010.10:g.89720600_89720637del
CM000672.1:g.89720600_89720637del
NC_000010.9:g.89710580_89710617del
NG_007466.2:g.102405_102442del
NM_000314.5:c.802-51_802-14del
NM_000314.6:c.802-51_802-14del
NM_001304717.2:c.1321-51_1321-14del
NM_001304718.1:c.211-51_211-14del
NM_001304717.5:c.1321-51_1321-14del
NM_001304718.2:c.211-51_211-14del
NM_000314.8:c.802-51_802-14del
ENST00000371953.7:c.802-51_802-14del
ENST00000472832.2:n.229-51_229-14del
Evidence submitted by expert panel
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