ClinVar Miner

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

dbSNP: rs201268947
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276530 SCV000431570 uncertain significance Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420846 SCV001623253 benign not specified 2021-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520368 SCV001729441 benign Congenital myasthenic syndrome 12 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001653625 SCV001865277 benign not provided 2019-08-27 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV001520368 SCV004812366 benign Congenital myasthenic syndrome 12 2023-05-04 criteria provided, single submitter clinical testing African population allele frequency is 53.11% (rs201931307, 80264/168730 alleles, 4671 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as BENIGN. Following criteria are met: BA1

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