Submissions for variant NM_000370.3(TTPA):c.664-4T>G

gnomAD frequency: 0.00304  dbSNP: rs2045224

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000267720	SCV000474653	benign	Familial isolated deficiency of vitamin E	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.
Invitae	RCV000949321	SCV001095571	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000949321	SCV001146564	benign	not provided	2019-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000949321	SCV001907222	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000267720	SCV001461509	benign	Familial isolated deficiency of vitamin E	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000949321	SCV002034709	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000949321	SCV002037677	likely benign	not provided		no assertion criteria provided	clinical testing