ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12762C>T (p.Ser4254=) (rs11554397)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633091 SCV000754303 benign Spastic paraplegia 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001114730 SCV001272635 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.
Athena Diagnostics Inc RCV001288701 SCV001476011 benign not specified 2020-02-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001114730 SCV001459470 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing
GeneDx RCV001571934 SCV001796495 likely benign not provided 2020-01-07 no assertion criteria provided clinical testing

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