ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe)

dbSNP: rs1344295491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tolun Lab, Human Genetics Laboratory, Bogazici University RCV000585757 SCV000583526 uncertain significance X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A no assertion criteria provided research

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