ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) (rs372022664)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518256 SCV000614940 uncertain significance not specified 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV001409443 SCV001611465 likely benign Spastic paraplegia 2020-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271971 SCV001453563 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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