ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser)

gnomAD frequency: 0.00001  dbSNP: rs547209998
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620564 SCV001846896 benign not provided 2020-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072932 SCV002479827 benign CHARGE syndrome 2024-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388622 SCV002668598 benign Inborn genetic diseases 2018-12-13 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV002488441 SCV002796045 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-10-20 criteria provided, single submitter clinical testing

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