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_000314.6(PTEN):c.586delC (p.His196Thrfs)
CA000526
7823 (ClinVar)
Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 47291ab6-b17d-4e14-9acd-faae6fe9ec1e
Approved on: 2018-04-06
Published on: 2018-12-10
HGVS expressions
NM_000314.6:c.586delC
NM_000314.6(PTEN):c.586delC (p.His196Thrfs)
NC_000010.11:g.87952211del
CM000672.2:g.87952211del
NC_000010.10:g.89711968del
CM000672.1:g.89711968del
NC_000010.9:g.89701948del
NG_007466.2:g.93773del
NM_000314.5:c.586del
NM_000314.6:c.586del
NM_001304717.2:c.1105del
NM_001304718.1:c.-6del
NM_000314.7:c.586del
NM_001304717.5:c.1105del
NM_001304718.2:c.-6del
ENST00000371953.7:c.586del
ENST00000472832.2:n.13del
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Evidence submitted by expert panel
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