Submissions for variant NM_006415.4(SPTLC1):c.781-6A>G (rs138268337)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000202714	SCV000171875	benign	not specified	2014-04-03	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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia	RCV000202714	SCV000258043	benign	not specified	2015-04-17	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001249805	SCV000481055	likely benign	Neuropathy, hereditary sensory and autonomic, type 1A	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000356423	SCV000626936	benign	Hereditary sensory and autonomic neuropathy type 1	2019-12-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001172882	SCV001335955	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001249805	SCV001473261	benign	Neuropathy, hereditary sensory and autonomic, type 1A	2020-01-20	criteria provided, single submitter	clinical testing