Submissions for variant NM_000371.4(TTR):c.70-7C>T

dbSNP: rs587780990

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126172	SCV000169667	benign	not specified	2014-04-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000647360	SCV000769153	benign	Amyloidosis, hereditary systemic 1	2025-01-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769525	SCV000900920	likely benign	Cardiomyopathy	2015-10-15	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173545	SCV001336635	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498613	SCV002805800	likely benign	Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1	2021-12-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000126172	SCV003934481	benign	not specified	2023-05-22	criteria provided, single submitter	clinical testing