ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2234G>A (p.Arg745His) (rs143677534)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088901 SCV000629459 likely benign Spastic paraplegia 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000555876 SCV001145322 likely benign not provided 2019-04-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000555876 SCV001715032 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271968 SCV001453558 likely benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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