ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.244C>T (p.Arg82Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005037492 SCV005660481 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-02-12 criteria provided, single submitter clinical testing

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