ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala)

gnomAD frequency: 0.52796  dbSNP: rs9938550
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248338 SCV000314597 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248338 SCV000339998 benign not specified 2016-02-25 criteria provided, single submitter clinical testing
GeneDx RCV001640574 SCV001860788 benign not provided 2018-07-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28973304)
Genome-Nilou Lab RCV001701917 SCV001933121 benign Congenital bile acid synthesis defect 1 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV001640574 SCV002326002 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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