ClinVar Miner

Submissions for variant NM_000212.2(ITGB3):c.1902C>T (p.Cys634=) (rs149823724)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV000360979 SCV001397479 benign Glanzmann thrombasthenia 2019-09-18 reviewed by expert panel curation This c.1902C>T Cys634= synonymous variant occurs at an allele frequency in gnomAD of 0.0006917 with a MAF of 0.009527 (190/19944 alleles, including 1 homozygote) in the East Asian population. no splice impact is predicted.This variant meets criteria to be classified as Benign by the ClinGen Platelet Disorders VCEP. GT-specific criteria met: BA1, BP7.
Illumina Clinical Services Laboratory,Illumina RCV000360979 SCV000403743 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.

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