ClinVar Miner

Submissions for variant NM_014003.4(DHX38):c.2316C>A (p.Ala772=)

gnomAD frequency: 0.46156  dbSNP: rs2074626
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519073 SCV001727878 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658219 SCV001876736 benign Retinitis pigmentosa 84 2021-07-30 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888275 SCV004706112 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001519073 SCV005249822 benign not provided criteria provided, single submitter not provided

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