ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2148G>A (p.Thr716=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003863425 SCV004666895 likely benign not provided 2024-07-17 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889356 SCV004705810 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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