Submissions for variant NM_001723.7(DST):c.3809A>G (p.Lys1270Arg)

gnomAD frequency: 0.02037  dbSNP: rs35497571

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000350186	SCV000464278	likely benign	Hereditary sensory and autonomic neuropathy type 6	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000529023	SCV000654512	benign	Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	2025-01-30	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000350186	SCV000744405	likely benign	Hereditary sensory and autonomic neuropathy type 6	2014-10-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001731631	SCV001983199	likely benign	not provided	2021-04-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001731631	SCV005222097	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001699388	SCV001924760	benign	not specified		no assertion criteria provided	clinical testing
Department of Molecular Biology and Genetics, Acibadem University	RCV005052808	SCV005686438	likely pathogenic	Multiple sclerosis	2024-06-10	no assertion criteria provided	research