ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.439-13T>G

gnomAD frequency: 0.00003  dbSNP: rs1305181844
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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 RCV002122281 SCV002391982 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025704 SCV005660495 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-05-08 criteria provided, single submitter clinical testing

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