ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.494C>T (p.Thr165Ile)

gnomAD frequency: 0.00002  dbSNP: rs1419027987
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712977 SCV000843537 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835937 SCV002086753 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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