ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8004T>C (p.Asp2668=)

dbSNP: rs1363359466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005101625 SCV005841753 likely benign CHARGE syndrome 2024-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894565 SCV004709986 likely benign CHD7-related disorder 2023-11-07 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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