Submissions for variant NM_000253.3(MTTP):c.-214G>A

gnomAD frequency: 0.00066  dbSNP: rs569667113

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000600514	SCV000446689	uncertain significance	Abetalipoproteinaemia	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727699	SCV004153005	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	MTTP: BP4
PreventionGenetics, part of Exact Sciences	RCV003902338	SCV004722971	likely benign	MTTP-related condition	2019-07-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600514	SCV000734296	likely benign	Abetalipoproteinaemia		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700073	SCV001925389	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727699	SCV001969306	likely benign	not provided		no assertion criteria provided	clinical testing