ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) (rs61742502)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224587 SCV000280849 likely benign not provided 2015-05-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001082218 SCV001103955 benign Spastic paraplegia 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109310 SCV001266631 likely benign Charlevoix-Saguenay spastic ataxia 2017-10-02 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000224587 SCV001802489 likely benign not provided 2019-06-19 no assertion criteria provided clinical testing

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