ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.729C>T (p.Pro243=)

gnomAD frequency: 0.00007  dbSNP: rs371398600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868521 SCV001009861 likely benign CHARGE syndrome 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381953 SCV002670961 likely benign Inborn genetic diseases 2018-09-06 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 RCV002501279 SCV002794714 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-12-16 criteria provided, single submitter clinical testing

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