Submissions for variant NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile)

gnomAD frequency: 0.00338  dbSNP: rs138288481

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000968944	SCV001116428	likely benign	not provided	2018-07-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105157	SCV001262081	benign	Thrombocytopenia	2018-01-12	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.
Genetics and Molecular Pathology, SA Pathology	RCV002466596	SCV002761421	likely benign	Thrombocytopenia 2	2020-01-22	criteria provided, single submitter	clinical testing	There is no data available for this variant, no inheritance mode available, likely benign computational predictions
CeGaT Center for Human Genetics Tuebingen	RCV000968944	SCV005051651	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	MASTL: BP4, BS2