ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)

gnomAD frequency: 0.00097  dbSNP: rs150981983
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173863 SCV000225027 uncertain significance not provided 2015-05-26 criteria provided, single submitter clinical testing
Invitae RCV001080295 SCV001006002 likely benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000173863 SCV001145330 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001277261 SCV002026661 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000173863 SCV002818969 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001277261 SCV001464173 likely benign Charlevoix-Saguenay spastic ataxia 2020-05-02 no assertion criteria provided clinical testing

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