ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.123C>G (p.Leu41=) (rs200670993)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725068 SCV000333729 uncertain significance not provided 2015-09-03 criteria provided, single submitter clinical testing
Invitae RCV000460676 SCV000562854 likely benign Limb-girdle muscular dystrophy, type 2F 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041401 SCV000065096 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing Leu41Leu in Exon 03 of SGCD: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence. It has been identified in 0.2% (5/3202) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Proj ect (http://evs.gs.washington.edu/EVS;). Leu41Leu in Exon 03 of SGCD (allele fr equency = 0.2%, 5/3202) **

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