ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)

gnomAD frequency: 0.41204  dbSNP: rs10927011
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000253713 SCV000311544 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381614 SCV000356827 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.
Illumina Laboratory Services, Illumina RCV000615867 SCV000356828 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.
Invitae RCV001520740 SCV001729918 benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001610674 SCV001840090 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000381614 SCV002054682 benign Bardet-Biedl syndrome 16 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000615867 SCV002054683 benign Senior-Loken syndrome 7 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615867 SCV000734018 benign Senior-Loken syndrome 7 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253713 SCV001964008 benign not specified no assertion criteria provided clinical testing

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