ClinVar Miner

Submissions for variant NM_014003.4(DHX38):c.69T>C (p.Gly23=)

gnomAD frequency: 0.04479  dbSNP: rs11554764
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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 RCV001516432 SCV001724712 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001516432 SCV002050442 benign not provided 2022-01-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888266 SCV004705187 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001516432 SCV005249259 benign not provided criteria provided, single submitter not provided

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