ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.69C>T (p.Tyr23=) (rs397517923)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041409 SCV000065104 likely benign not specified 2012-07-31 criteria provided, single submitter clinical testing Tyr23Tyr in exon 03 of SGCD: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Tyr23Tyr in exon 03 of SGCD (allele frequency = n/a)
PreventionGenetics,PreventionGenetics RCV000041409 SCV000303689 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726379 SCV000344191 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV001089288 SCV000562851 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000041409 SCV000719692 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000665851 SCV000790037 likely benign Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-03-02 criteria provided, single submitter clinical testing

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