ClinVar Miner

Submissions for variant NM_172244.3(SGCD):c.771A>C (p.Ter257Cys) (rs376317697)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151874 SCV000200360 uncertain significance not specified 2010-05-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic.
CSER _CC_NCGL, University of Washington RCV000211472 SCV000212183 uncertain significance Primary dilated cardiomyopathy 2015-03-11 criteria provided, single submitter research
Counsyl RCV000672880 SCV000798029 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2018-02-20 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256961 SCV001433499 uncertain significance Dilated cardiomyopathy 1A 2019-05-27 criteria provided, single submitter clinical testing

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