Submissions for variant NM_001386140.1(MTTP):c.2513+13G>A

gnomAD frequency: 0.00176  dbSNP: rs148073215

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000614210	SCV000446732	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520334	SCV001729404	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614210	SCV000734301	likely benign	Abetalipoproteinaemia		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699382	SCV001921573	benign	not specified		no assertion criteria provided	clinical testing