ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9846A>G (p.Pro3282=) (rs61753111)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083576 SCV000562828 benign Spastic paraplegia 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516893 SCV000614996 benign not provided 2017-12-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000516893 SCV001148934 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274922 SCV001459481 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing
GeneDx RCV000516893 SCV001803981 likely benign not provided 2020-11-03 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 19779133)

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