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

Total submissions: 8

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	2020-12-04	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
Clinical Genetics,Academic Medical Center	RCV000202714	SCV001923034	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000202714	SCV001928479	benign	not specified		no assertion criteria provided	clinical testing