ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12813T>G (p.Pro4271=) (rs146376949)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081835 SCV000629453 likely benign Spastic paraplegia 2020-12-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712961 SCV000843521 benign not specified 2019-09-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001114727 SCV001272632 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-01-17 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001529134 SCV001780346 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529134 SCV001742080 likely benign not provided no assertion criteria provided clinical testing

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