ClinVar Miner

Submissions for variant NM_014003.4(DHX38):c.1698G>A (p.Thr566=)

gnomAD frequency: 0.45838  dbSNP: rs2240243
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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 RCV001516436 SCV001724716 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664947 SCV001876735 benign Retinitis pigmentosa 84 2021-07-30 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888270 SCV004706101 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001516436 SCV005249370 benign not provided criteria provided, single submitter not provided

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