Submissions for variant NM_001386140.1(MTTP):c.1769+14C>T

gnomAD frequency: 0.03960  dbSNP: rs41275713

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000625115	SCV000446725	benign	Abetalipoproteinaemia	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625115	SCV000743812	benign	Abetalipoproteinaemia	2015-12-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513413	SCV001721029	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001513413	SCV001859941	benign	not provided	2018-10-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001700336	SCV002051225	benign	not specified	2021-12-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001513413	SCV005301450	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700336	SCV001917287	benign	not specified		no assertion criteria provided	clinical testing