ClinVar Miner

Submissions for variant NC_000006.12:g.99593098A>C

dbSNP: rs1583607800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003125 SCV001161194 likely pathogenic maculopathy 2019-06-23 no assertion criteria provided research
OMIM RCV001290014 SCV001478070 pathogenic North Carolina macular dystrophy 2021-01-22 no assertion criteria provided literature only

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