ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) (rs151078549)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174368 SCV000225656 benign not specified 2014-05-23 criteria provided, single submitter clinical testing
GeneDx RCV001721104 SCV000522203 benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000174368 SCV000614752 benign not specified 2020-03-12 criteria provided, single submitter clinical testing
Invitae RCV000534768 SCV000649918 benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2020-11-27 criteria provided, single submitter clinical testing

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