ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1149C>T (p.His383=) (rs202121299)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724838 SCV000331986 uncertain significance not provided 2015-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000394979 SCV000514250 likely benign not specified 2018-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000394979 SCV000596534 likely benign not specified 2015-12-03 criteria provided, single submitter clinical testing
Invitae RCV001085734 SCV000769982 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724838 SCV001145176 benign not provided 2019-06-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724838 SCV001502105 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing

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