ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=)

dbSNP: rs231399
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246559 SCV000309347 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386904 SCV000449208 benign Fibrous dysplasia of jaw 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000246559 SCV000540333 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000386904 SCV000743660 benign Fibrous dysplasia of jaw 2017-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000386904 SCV001723463 benign Fibrous dysplasia of jaw 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001722315 SCV001948378 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000386904 SCV002055188 benign Fibrous dysplasia of jaw 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000246559 SCV004102623 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 85% of patients studied by a panel of primary immunodeficiencies. Number of patients: 82. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001722315 SCV005299453 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000386904 SCV000734334 benign Fibrous dysplasia of jaw no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001722315 SCV002074748 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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