Submissions for variant NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn)

gnomAD frequency: 0.00267  dbSNP: rs144315111

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595861	SCV000707366	likely benign	not specified	2017-04-17	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625394	SCV000745228	likely benign	Abetalipoproteinaemia	2017-11-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000879647	SCV001022693	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000879647	SCV001791178	likely benign	not provided	2021-06-22	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000879647	SCV001921974	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927934	SCV004738550	likely benign	MTTP-related disorder	2019-11-11	no assertion criteria provided	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).