ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)

gnomAD frequency: 0.00022  dbSNP: rs201423234
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176941 SCV000228720 uncertain significance not provided 2015-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000700201 SCV000828948 likely benign CHARGE syndrome 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314624 SCV000847911 likely benign Inborn genetic diseases 2017-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000176941 SCV001940291 likely benign not provided 2020-08-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25996639, 28475860, 21158681)
PreventionGenetics, part of Exact Sciences RCV003927635 SCV004745446 likely benign CHD7-related disorder 2021-09-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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