ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5190C>T (p.His1730=)

dbSNP: rs1481698349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003951913 SCV004758428 likely benign CHD7-related disorder 2023-08-17 no assertion criteria provided 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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