ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)

gnomAD frequency: 0.00004  dbSNP: rs188188906
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000253057 SCV000192803 benign not specified 2020-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000253057 SCV000313001 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726423 SCV000344524 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145695 SCV000562428 benign CHARGE syndrome 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000726423 SCV001960360 benign not provided 2020-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408646 SCV002669290 likely benign Inborn genetic diseases 2018-01-19 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.

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