ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.179-4G>T

gnomAD frequency: 0.00001  dbSNP: rs776262869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978181 SCV001126107 likely benign PMM2-congenital disorder of glycosylation 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000978181 SCV002808237 likely benign PMM2-congenital disorder of glycosylation 2022-01-18 criteria provided, single submitter clinical testing

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