ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His)

dbSNP: rs1553405319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626167 SCV000746802 uncertain significance GM3 synthase deficiency 2020-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000626167 SCV001520495 uncertain significance GM3 synthase deficiency 2020-06-30 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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