ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4128+11C>T

gnomAD frequency: 0.00148  dbSNP: rs202102586
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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 RCV001074735 SCV001240330 uncertain significance Retinal dystrophy 2019-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523764 SCV001733534 benign not provided 2024-12-20 criteria provided, single submitter clinical testing

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