ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.699+71G>A (rs187204080)

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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 RCV000041412 SCV000065107 benign not specified 2012-11-15 criteria provided, single submitter clinical testing X257X in exon 8 of SGCD: This variant is not expected to have clinical significa nce because it does not alter the stop codon and is not located near a splice ju nction. This variant was present in 3.0% (10/334) of African American control ch romosomes (LMM unpublished data) and in 0.9% (33/3832) of African American chrom osomes from a broad population by the NHLBI Exome Sequencing Project (http://evs .gs.washington.edu/EVS/; dbSNP rs187204080).
GeneDx RCV000041412 SCV000171622 benign not specified 2014-01-24 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041412 SCV000337546 benign not specified 2015-11-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992965 SCV001145593 benign not provided 2018-09-26 criteria provided, single submitter clinical testing

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