ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys)

gnomAD frequency: 0.00001  dbSNP: rs756303420
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 RCV000518654 SCV000614952 uncertain significance not specified 2017-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829475 SCV002086698 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-05-21 no assertion criteria provided clinical testing

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