ClinVar Miner

Submissions for variant NM_004531.5(MOCS2):c.*413del

gnomAD frequency: 0.15118  dbSNP: rs3839261
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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 RCV000267699 SCV000457859 likely benign Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388960 SCV000484164 benign Platelet-type bleeding disorder 9 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001718760 SCV001948275 benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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