ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.560+16G>C (rs73512337)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128282 SCV000171874 benign not specified 2014-01-28 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172881 SCV001335954 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609452 SCV000734721 benign Neuropathy, hereditary sensory and autonomic, type 1A no assertion criteria provided clinical testing

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