ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2675G>A (p.Arg892His)

gnomAD frequency: 0.00005  dbSNP: rs200188105
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733309 SCV001982010 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073980 SCV002408383 benign CHARGE syndrome 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503183 SCV002809988 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040039 SCV004923858 likely benign Inborn genetic diseases 2024-02-27 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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