ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.617del (p.Phe206fs)

dbSNP: rs1555449810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667136 SCV000791541 uncertain significance PMM2-congenital disorder of glycosylation 2017-05-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667136 SCV004205289 likely pathogenic PMM2-congenital disorder of glycosylation 2023-04-11 criteria provided, single submitter clinical testing

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