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_007373.3(SHOC2):c.1540+8C>A
CA5689793
448937 (ClinVar)
Gene: SHOC2
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 2f985b45-4b2f-4cf7-9c5f-216b9c6f4426
Approved on: 2017-04-18
Published on: 2018-12-10
HGVS expressions
NM_007373.3:c.1540+8C>A
NM_007373.3(SHOC2):c.1540+8C>A
NC_000010.11:g.111009838C>A
CM000672.2:g.111009838C>A
NC_000010.10:g.112769596C>A
CM000672.1:g.112769596C>A
NC_000010.9:g.112759586C>A
NG_028922.1:g.95296C>A
NM_001269039.1:c.1402+8C>A
NM_001269039.2:c.1402+8C>A
NM_001324336.1:c.1540+8C>A
NM_001324337.1:c.1540+8C>A
NR_136749.1:n.952+8C>A
ENST00000265277.9:c.1402+8C>A
ENST00000369452.8:c.1540+8C>A
ENST00000451838.1:n.910+8C>A
ENST00000489390.1:n.754+8C>A
Evidence submitted by expert panel
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