ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2412T>C (p.Ser804=) (rs2787374)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081629 SCV000113560 benign not specified 2014-04-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081629 SCV000312180 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000605699 SCV000475972 benign Infantile nephronophthisis 2018-01-13 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605699 SCV000744362 benign Infantile nephronophthisis 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000399311 SCV001000068 benign Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605699 SCV000734626 benign Infantile nephronophthisis no assertion criteria provided clinical testing

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