ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.1122C>T (p.Asp374=)

gnomAD frequency: 0.00126  dbSNP: rs114708917
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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 RCV002110339 SCV002435978 benign not provided 2023-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933541 SCV004764228 likely benign C2CD3-related disorder 2022-10-25 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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