Submissions for variant NM_000371.4(TTR):c.70-16T>C

gnomAD frequency: 0.00001  dbSNP: rs759512847

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001716255	SCV001940478	benign	not provided	2016-04-28	criteria provided, single submitter	clinical testing
Invitae	RCV002073275	SCV002440630	likely benign	Familial amyloid neuropathy	2023-09-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002360998	SCV002666548	uncertain significance	Cardiovascular phenotype	2017-11-08	criteria provided, single submitter	clinical testing	The c.70-16T>C intronic variant results from a T to C substitution 16 nucleotides upstream from coding exon 2 in the TTR gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001716255	SCV004562489	likely benign	not provided	2023-09-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001698892	SCV005039275	likely benign	not specified	2024-03-30	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001698892	SCV001917022	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001716255	SCV001956317	likely benign	not provided		no assertion criteria provided	clinical testing