ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4860G>C (p.Arg1620=)

gnomAD frequency: 0.00001  dbSNP: rs1441410913
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001443877 SCV001646862 likely benign CHARGE association 2020-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900524 SCV004714708 likely benign CHD7-related condition 2022-05-10 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).

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