ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)

gnomAD frequency: 0.00015  dbSNP: rs371608031
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442925 SCV000530606 uncertain significance not provided 2024-12-31 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000765760 SCV000897148 uncertain significance COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001402263 SCV001604108 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027492 SCV005662458 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-02-15 criteria provided, single submitter clinical testing

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