ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4302A>G (p.Leu1434=) (rs34559250)

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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 RCV000357802 SCV000383353 uncertain significance Charlevoix-Saguenay spastic ataxia 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, 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.
Athena Diagnostics Inc RCV000517025 SCV000614956 likely benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000864699 SCV001005538 benign Spastic paraplegia 2020-12-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171670 SCV001334478 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000357802 SCV001736782 likely benign Charlevoix-Saguenay spastic ataxia 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000357802 SCV001460063 likely benign Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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