ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.859-14_859-13del

dbSNP: rs1661673887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075590 SCV001241217 uncertain significance Retinal dystrophy 2019-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001452795 SCV001656468 likely benign not provided 2024-11-16 criteria provided, single submitter clinical testing

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