ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1245G>A (p.Pro415=)

gnomAD frequency: 0.00012  dbSNP: rs745900311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316091 SCV000847605 likely benign Inborn genetic diseases 2016-08-22 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.
GeneDx RCV001585667 SCV001812950 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060907 SCV002403819 likely benign CHARGE syndrome 2023-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507255 SCV002801148 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-02-08 criteria provided, single submitter clinical testing

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