ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)

gnomAD frequency: 0.00001  dbSNP: rs753277514
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
Invitae RCV000906846 SCV001051510 likely benign Spastic paraplegia 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001272178 SCV002805070 likely benign Charlevoix-Saguenay spastic ataxia 2021-07-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272178 SCV001453884 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-17 no assertion criteria provided clinical testing

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