ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) (rs115407852)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000356385 SCV000341726 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487973 SCV000575218 likely pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000487973 SCV000649734 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Counsyl RCV000675073 SCV000800565 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-07-27 criteria provided, single submitter clinical testing
Mendelics RCV000675073 SCV001135891 uncertain significance Limb-girdle muscular dystrophy, type 2B 2019-05-28 criteria provided, single submitter clinical testing

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