ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) (rs137905181)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712994 SCV000843555 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765118 SCV000896340 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001034278 SCV001197616 likely benign Spastic paraplegia 2020-12-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000712994 SCV001713615 uncertain significance not provided 2019-09-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000765118 SCV001455920 likely benign Charlevoix-Saguenay spastic ataxia 2020-06-16 no assertion criteria provided clinical testing

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