ClinVar Miner

Submissions for variant NM_004531.5(MOCS2):c.99-8_99-5del

dbSNP: rs779872271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400880 SCV000457870 uncertain significance Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001434954 SCV001637772 likely benign not provided 2023-12-16 criteria provided, single submitter clinical testing

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