ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) (rs143967758)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV000312553 SCV001397504 benign Glanzmann thrombasthenia 2020-06-04 reviewed by expert panel curation The NM_000419.5:c.1627C>T (p.Arg543Trp) variant occurs at an allele frequency of 0.00968 in the gnomAD African population and is predicted by REVEL score of 0.229 to have no impact. In summary, the variant is classified as benign. GT-specific criteria applied: BA1 and BP4.
Illumina Clinical Services Laboratory,Illumina RCV000312553 SCV000403373 likely benign Glanzmann thrombasthenia 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000312553 SCV001004212 benign Glanzmann thrombasthenia 2019-12-31 criteria provided, single submitter clinical testing

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