ClinVar Miner

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

gnomAD frequency: 0.01288  dbSNP: rs138268337
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Total submissions: 9
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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 Laboratory Services, 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 2024-02-01 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 RCV003656629 SCV001473261 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975132 SCV004792869 benign SPTLC1-related condition 2019-06-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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

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