Submissions for variant NM_000371.4(TTR):c.336+19G>A

gnomAD frequency: 0.00309  dbSNP: rs75517067

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030573	SCV000053248	likely benign	Familial amyloid neuropathy	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000723872	SCV000203764	uncertain significance	not provided	2013-12-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549394	SCV000303885	benign	TTR-related disorder	2022-08-29	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000030573	SCV000995464	likely benign	Familial amyloid neuropathy	2019-05-20	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173305	SCV001336389	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV000723872	SCV001865639	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV000030573	SCV002410868	benign	Familial amyloid neuropathy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321492	SCV002609069	benign	Cardiovascular phenotype	2018-09-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000723872	SCV003799548	likely benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000244982	SCV001919787	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000244982	SCV001928246	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000723872	SCV002036738	likely benign	not provided		no assertion criteria provided	clinical testing