ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)

gnomAD frequency: 0.00002  dbSNP: rs763108716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075740 SCV001241370 uncertain significance Retinal dystrophy 2019-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069584 SCV002481183 likely benign not provided 2024-02-22 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001075740 SCV004705630 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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