ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.276C>T (p.Asn92=)

gnomAD frequency: 0.00001  dbSNP: rs779967922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251227 SCV000312963 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498768 SCV001703521 likely benign CHARGE syndrome 2022-11-22 criteria provided, single submitter clinical testing

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