ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)

dbSNP: rs1570393848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000787010 SCV000925918 likely pathogenic Cone-rod dystrophy 3 2019-01-08 no assertion criteria provided clinical testing

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