ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4675-19A>G

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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 RCV002628986 SCV003515971 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540588 SCV004786004 likely benign CC2D2A-related disorder 2022-06-16 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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