ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.970A>G (p.Thr324Ala) (rs1800390)

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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 RCV000122306 SCV000232978 likely benign not specified 2014-08-26 criteria provided, single submitter clinical testing
Invitae RCV000231527 SCV000285578 benign Werner syndrome 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231527 SCV001325237 benign Werner syndrome 2017-05-30 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ITMI RCV000122306 SCV000086535 not provided not specified 2013-09-19 no assertion provided reference population
Center of Medical Genetics and Primary Health Care RCV001269485 SCV001449053 benign Malignant tumor of breast no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579808 SCV001808580 likely benign not provided no assertion criteria provided clinical testing

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