ClinVar Miner

Submissions for variant NM_004928.3(CFAP410):c.643-2A>G

dbSNP: rs1602071524
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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 RCV001002898 SCV001160933 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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