ClinVar Miner

Submissions for variant NM_002056.4(GFPT1):c.685+210G>A (rs1574066341)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022589 SCV000043878 pathogenic Congenital myasthenic syndrome 12 2011-02-11 no assertion criteria provided literature only

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