Submissions for variant NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val)

gnomAD frequency: 0.00443  dbSNP: rs35313240

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000357245	SCV000449199	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000357245	SCV000623925	benign	Fibrous dysplasia of jaw	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001574057	SCV004147547	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	SH3BP2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001574057	SCV005299446	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001574057	SCV001800792	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702622	SCV001928683	benign	not specified		no assertion criteria provided	clinical testing