ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)

gnomAD frequency: 0.00001  dbSNP: rs765635417
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712995 SCV000843556 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
Invitae RCV002532946 SCV003279304 likely benign Spastic paraplegia 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825427 SCV002086191 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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