ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5191C>T (p.Leu1731=)

gnomAD frequency: 0.00001  dbSNP: rs752330796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867927 SCV001009201 likely benign CHARGE association 2023-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948137 SCV004761710 likely benign CHD7-related condition 2019-11-19 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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