ClinVar Miner

Submissions for variant NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)

gnomAD frequency: 0.00002  dbSNP: rs1065764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001293780 SCV001526668 uncertain significance B4GALT1-congenital disorder of glycosylation 2018-04-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV001293780 SCV001482479 pathogenic B4GALT1-congenital disorder of glycosylation 2021-03-02 no assertion criteria provided literature only

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