ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7149C>T (p.Arg2383=) (rs17078608)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079334 SCV000629479 benign Spastic paraplegia 2020-12-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001115058 SCV001272997 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc RCV001287912 SCV001474677 benign not specified 2020-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000676361 SCV001778870 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676361 SCV000802137 benign not provided 2016-02-29 no assertion criteria provided clinical testing
Natera, Inc. RCV001115058 SCV001463597 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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