ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.1255-7C>T (rs7863487)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001249809 SCV000481049 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000433492 SCV000514777 benign not specified 2015-05-15 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.
Invitae RCV000340964 SCV000626929 benign Hereditary sensory and autonomic neuropathy type 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000859311 SCV001145794 benign not provided 2018-09-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001249809 SCV001157637 benign Neuropathy, hereditary sensory and autonomic, type 1A 2019-12-18 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172885 SCV001335958 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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