ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4675-15G>A

gnomAD frequency: 0.00026  dbSNP: rs377573053
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002074124 SCV002396869 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506826 SCV002808604 likely benign Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2022-04-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001794958 SCV002033895 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001794959 SCV002034495 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004542112 SCV004764822 likely benign CC2D2A-related disorder 2022-05-26 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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