ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.510G>A (p.Pro170=)

gnomAD frequency: 0.00006  dbSNP: rs748841915
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874796 SCV001017024 likely benign CHARGE association 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001548457 SCV001768373 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336844 SCV002642553 likely benign Inborn genetic diseases 2017-11-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV002495308 SCV002797256 likely benign CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-04-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001548457 SCV004702377 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CHD7: BP4, BP7

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