ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)

gnomAD frequency: 0.00002  dbSNP: rs761690372
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001071021 SCV001236302 likely benign Spastic paraplegia 2023-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833671 SCV002086201 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-06-03 no assertion criteria provided clinical testing

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