ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1053A>G (p.Val351=)

gnomAD frequency: 0.00002  dbSNP: rs199880694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000868601 SCV001502644 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CHD7: BP4, BP7
Invitae RCV001458151 SCV001661966 likely benign CHARGE association 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000868601 SCV001766185 likely benign not provided 2020-04-10 criteria provided, single submitter clinical testing

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