ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3360A>G (p.Pro1120=)

dbSNP: rs2109070685
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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 RCV001422420 SCV001624967 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540298 SCV004792990 likely benign CC2D2A-related disorder 2023-09-14 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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