ClinVar Miner

Submissions for variant NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala)

gnomAD frequency: 0.03267  dbSNP: rs2233213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349961 SCV000457869 likely benign Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001517943 SCV001726553 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001517943 SCV001941322 benign not provided 2021-05-18 criteria provided, single submitter clinical testing

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