ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2109T>G (p.Pro703=)

gnomAD frequency: 0.00011  dbSNP: rs192950146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870365 SCV001011859 likely benign CHARGE syndrome 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001558175 SCV001780067 likely benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416047 SCV002726955 likely benign Inborn genetic diseases 2020-03-26 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.
Fulgent Genetics, Fulgent Genetics RCV002495294 SCV002795742 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-12-29 criteria provided, single submitter clinical testing

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