ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7119C>T (p.Ser2373=)

gnomAD frequency: 0.00013  dbSNP: rs201046385
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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 RCV001466140 SCV001670139 likely benign CHARGE syndrome 2023-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001552652 SCV001773378 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368430 SCV002662658 likely benign Inborn genetic diseases 2018-03-22 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 RCV002495679 SCV002800421 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-11-05 criteria provided, single submitter clinical testing

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