ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2182-8G>A

gnomAD frequency: 0.00009  dbSNP: rs370731685
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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 RCV002540142 SCV001040173 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711382 SCV005257219 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541852 SCV004788125 likely benign CC2D2A-related disorder 2023-03-15 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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