ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) (rs150756641)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541430 SCV000626937 likely benign Hereditary sensory and autonomic neuropathy type 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000602853 SCV000717434 likely benign not specified 2017-03-20 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.
Illumina Clinical Services Laboratory,Illumina RCV001249824 SCV001327692 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174086 SCV001337206 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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