ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1443C>T (p.His481=)

gnomAD frequency: 0.00001  dbSNP: rs139415150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731140 SCV000515789 likely benign not provided 2018-04-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731140 SCV000858918 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV001487542 SCV001692032 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539791 SCV004785790 likely benign POMT1-related disorder 2021-05-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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