ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)

gnomAD frequency: 0.00008  dbSNP: rs764496155
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059725 SCV001224367 likely benign CHARGE association 2024-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001655672 SCV001868945 likely benign not provided 2023-03-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Revvity Omics, Revvity RCV001655672 SCV003831951 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing

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