ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)

gnomAD frequency: 0.00006  dbSNP: rs778418119
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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) RCV000598512 SCV000705237 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Invitae RCV001088943 SCV000769984 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000598512 SCV001829564 likely benign not provided 2020-11-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16575835)

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