ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5160C>T (p.Ala1720=)

gnomAD frequency: 0.00001  dbSNP: rs766759257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001439821 SCV001642715 likely benign CHARGE association 2023-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938771 SCV004756700 likely benign CHD7-related condition 2019-11-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics RCV004038374 SCV005027407 likely benign Inborn genetic diseases 2023-12-31 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.

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