ClinVar Miner

Submissions for variant NM_014003.4(DHX38):c.1308T>C (p.Ala436=)

gnomAD frequency: 0.58097  dbSNP: rs1050363
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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 RCV001516435 SCV001724715 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664946 SCV001876734 benign Retinitis pigmentosa 84 2021-07-30 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888269 SCV004706095 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001516435 SCV005249326 benign not provided criteria provided, single submitter not provided

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