ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4467G>T (p.Arg1489Ser)

gnomAD frequency: 0.00098  dbSNP: rs140952412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000961293 SCV001108333 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074595 SCV001240186 uncertain significance Retinal dystrophy 2019-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000961293 SCV002504060 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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