ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.462G>A (p.Arg154=)

dbSNP: rs1253706083
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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 RCV001469482 SCV001673562 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888187 SCV004706793 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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