ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) (rs117078377)

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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 RCV000078583 SCV000110439 benign not specified 2016-06-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078583 SCV000303537 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999979 SCV000451549 benign Polycystic kidney disease 2 2018-03-06 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000078583 SCV000592875 benign not specified 2016-04-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999979 SCV000604824 benign Polycystic kidney disease 2 2018-07-11 criteria provided, single submitter clinical testing
Invitae RCV000369049 SCV000999993 benign Polycystic kidney disease, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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