ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala)

gnomAD frequency: 0.00007  dbSNP: rs746837682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690891 SCV000818620 benign CHARGE association 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315991 SCV000847575 likely benign Inborn genetic diseases 2017-11-13 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.
Athena Diagnostics Inc RCV000991793 SCV001143545 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000991793 SCV001887842 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21158681)

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