ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) (rs36023150)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081408 SCV000113339 benign not specified 2014-06-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269836 SCV000433007 benign Congenital dyserythropoietic anemia, type II 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.
Invitae RCV000560193 SCV000637257 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000210063 SCV000265993 uncertain significance Cowden syndrome 7 2018-07-11 no assertion criteria provided literature only

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