ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)

gnomAD frequency: 0.25552  dbSNP: rs2275155
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253187 SCV000311541 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000253187 SCV000341995 benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000608817 SCV000356819 benign Senior-Loken syndrome 7 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000319736 SCV000356820 benign Bardet-Biedl syndrome 16 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001519740 SCV001728660 benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001618442 SCV001844265 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000319736 SCV002054678 benign Bardet-Biedl syndrome 16 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000608817 SCV002054679 benign Senior-Loken syndrome 7 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608817 SCV000734017 benign Senior-Loken syndrome 7 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253187 SCV001971532 benign not specified no assertion criteria provided clinical testing

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