ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)

gnomAD frequency: 0.00004  dbSNP: rs377304621
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203138 SCV000257802 uncertain significance not specified 2015-02-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000203138 SCV000311731 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724979 SCV000332875 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000724979 SCV000722917 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079894 SCV001091327 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724979 SCV004156574 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing POMT1: BP4

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