ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6240T>C (p.Val2080=) (rs550680855)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000676363 SCV000340914 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing
Invitae RCV001086386 SCV001009396 likely benign Spastic paraplegia 2020-10-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001111737 SCV001269321 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV000676363 SCV000802139 likely benign not provided 2017-11-01 no assertion criteria provided clinical testing

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