ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala)

gnomAD frequency: 0.00004  dbSNP: rs766282869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813003 SCV000953336 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-01-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792512 SCV005410526 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing BP4, PM2
PreventionGenetics, part of Exact Sciences RCV004538114 SCV004711776 likely benign CC2D2A-related disorder 2022-07-28 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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