ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5846del (p.Gly1949fs)

dbSNP: rs1659452428
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073375 SCV001238916 likely pathogenic Retinal dystrophy 2019-01-04 criteria provided, single submitter clinical testing

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