ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.543T>G (p.Pro181=) (rs200451694)

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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 RCV000725804 SCV000339515 uncertain significance not provided 2016-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000725804 SCV000529087 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing
Invitae RCV001080862 SCV000638175 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2020-11-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000282516 SCV001159731 likely benign not specified 2019-06-02 criteria provided, single submitter clinical testing

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