ClinVar Miner

Submissions for variant NM_014003.4(DHX38):c.418C>A (p.Arg140=)

dbSNP: rs1050362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516434 SCV001724714 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664945 SCV001876733 benign Retinitis pigmentosa 84 2021-07-30 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888268 SCV004705198 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001516434 SCV005249293 benign not provided criteria provided, single submitter not provided

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