ClinVar Miner

Submissions for variant NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp)

dbSNP: rs1388629959
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336749 SCV001530221 uncertain significance MPDU1-congenital disorder of glycosylation 2018-10-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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