ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)

dbSNP: rs1602627593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002910 SCV001160945 likely pathogenic Congenital stationary night blindness 2019-06-23 no assertion criteria provided research

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