ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) (rs61754478)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725615 SCV000338182 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000338875 SCV000614974 uncertain significance not specified 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV001079763 SCV001004717 likely benign Spastic paraplegia 2020-12-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725615 SCV001148942 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109417 SCV001266756 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000725615 SCV001715024 uncertain significance not provided 2019-10-06 criteria provided, single submitter clinical testing

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