ClinVar Miner

Submissions for variant NM_004531.5(MOCS2):c.255A>G (p.Lys85=)

gnomAD frequency: 0.03263  dbSNP: rs2233216
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292675 SCV000457868 likely benign Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001517942 SCV001726552 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001517942 SCV001857351 benign not provided 2021-05-18 criteria provided, single submitter clinical testing

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