ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)

gnomAD frequency: 0.00001  dbSNP: rs1574066341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269982 SCV001450385 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing
OMIM RCV000022589 SCV000043878 pathogenic Congenital myasthenic syndrome 12 2011-02-11 no assertion criteria provided literature only

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