ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) (rs148206382)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000153241 SCV000151163 likely benign not specified 2014-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000512944 SCV000196823 benign not provided 2019-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11741828, 16344347, 22451200, 16717227, 18832576, 27884173, 29065428, 28482373, 32403337)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153241 SCV000202715 benign not specified 2014-02-17 criteria provided, single submitter clinical testing
Invitae RCV001081194 SCV000559445 likely benign Walker-Warburg congenital muscular dystrophy 2020-12-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000153241 SCV000603720 likely benign not specified 2018-10-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512944 SCV000608913 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Counsyl RCV000672414 SCV000797516 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2018-01-30 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852754 SCV000995472 benign Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing
Mendelics RCV000672414 SCV001141108 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2019-05-28 criteria provided, single submitter clinical testing

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