ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp)

gnomAD frequency: 0.00072  dbSNP: rs190648042
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629255 SCV000750190 likely benign Fibrous dysplasia of jaw 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000629255 SCV000883053 likely benign Fibrous dysplasia of jaw 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000629255 SCV001306086 benign Fibrous dysplasia of jaw 2017-04-28 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706689 SCV001966398 uncertain significance not provided no assertion criteria provided clinical testing

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