ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2988A>G (p.Leu996=) (rs111846884)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086002 SCV000289955 benign Spastic paraplegia 2020-12-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000386665 SCV000345522 likely benign not specified 2016-09-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761852 SCV000892057 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000761852 SCV001145328 benign not provided 2018-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109613 SCV001266967 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-04-27 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.
Nilou-Genome Lab RCV001109613 SCV001653327 likely benign Charlevoix-Saguenay spastic ataxia 2021-05-18 criteria provided, single submitter clinical testing

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