ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)

dbSNP: rs1265079301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787503 SCV000926469 uncertain significance Macular dystrophy 2018-04-01 no assertion criteria provided research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787767 SCV000926772 uncertain significance Stargardt disease 2018-04-01 no assertion criteria provided research

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