ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) (rs140553130)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248748 SCV000311749 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725195 SCV000334830 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000725195 SCV000524734 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Invitae RCV001089075 SCV001005433 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725195 SCV001145182 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing

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