ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8224A>C (p.Asn2742His)

dbSNP: rs772957679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003037014 SCV003195070 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003603130 SCV004479726 likely benign CHARGE syndrome 2022-12-08 criteria provided, single submitter clinical testing

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