ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln)

dbSNP: rs1397588851
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 RCV000712984 SCV000843544 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830586 SCV002086230 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-10-28 no assertion criteria provided clinical testing

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