Submissions for variant NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)

dbSNP: rs3839049

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078340	SCV000110186	benign	not specified	2013-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000078340	SCV000238895	benign	not specified	2013-08-27	criteria provided, single submitter	clinical testing	The variant is found in HADHB panel(s).
Illumina Laboratory Services, Illumina	RCV000270663	SCV000429552	benign	Mitochondrial trifunctional protein deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000078340	SCV000539267	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 83% of total chromosomes in ExAC
Mendelics	RCV000270663	SCV001135633	benign	Mitochondrial trifunctional protein deficiency	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000270663	SCV001728770	benign	Mitochondrial trifunctional protein deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry	RCV000144492	SCV000189810	not provided	not provided		no assertion provided	not provided