ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.2056-12_2056-11del

dbSNP: rs201268947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298849 SCV000431571 uncertain significance Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514833 SCV001722774 benign Congenital myasthenic syndrome 12 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001653626 SCV001863535 benign not provided 2019-08-27 criteria provided, single submitter clinical testing

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