ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.393C>T (p.Ala131=) (rs397517922)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668061 SCV000792605 likely benign Dilated cardiomyopathy 1L; Limb-girdle muscular dystrophy, type 2F 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000041406 SCV000526314 likely benign not specified 2016-03-29 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.
Invitae RCV000639557 SCV000761133 likely benign Limb-girdle muscular dystrophy, type 2F 2017-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041406 SCV000065101 likely benign not specified 2011-03-08 criteria provided, single submitter clinical testing Ala131Ala in exon 6 of SGCD: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction.

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