ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.105G>C (p.Leu35=) (rs193922392)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000154533 SCV000053119 benign not specified 2019-10-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154533 SCV000204205 benign not specified 2013-07-29 criteria provided, single submitter clinical testing Leu35Leu 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 and has been identified in 0.6% (25/3910) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS;).
Invitae RCV000228574 SCV000284647 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154533 SCV000337618 likely benign not specified 2015-11-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030450 SCV000901632 benign Cardiomyopathy 2017-05-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001156234 SCV001317721 likely benign Qualitative or quantitative defects of delta-sarcoglycan 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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