ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.541-6C>T

gnomAD frequency: 0.00001  dbSNP: rs757151024
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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 RCV002112731 SCV002393676 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531381 SCV004709496 likely benign CC2D2A-related disorder 2023-01-12 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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