ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5973G>C (p.Val1991=)

gnomAD frequency: 0.00001  dbSNP: rs886044757
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408558 SCV000281945 uncertain significance Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816430 SCV005072068 uncertain significance Retinal dystrophy 2012-01-01 criteria provided, single submitter clinical testing

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