ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)

dbSNP: rs757830349
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000367352 SCV000345224 uncertain significance not provided 2016-08-23 criteria provided, single submitter clinical testing
Invitae RCV001392641 SCV001594287 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000367352 SCV004156576 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing POMT1: BP4, BP7

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