ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.303G>A (p.Pro101=)

gnomAD frequency: 0.00010  dbSNP: rs373868449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866359 SCV001007443 likely benign CHARGE association 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001776068 SCV002013325 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507490 SCV002802914 likely benign CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362991 SCV004056275 likely benign Inborn genetic diseases 2023-07-29 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.

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