ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4998A>G (p.Thr1666=)

gnomAD frequency: 0.00012  dbSNP: rs184994682
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 RCV000862021 SCV001002449 likely benign Spastic paraplegia 2024-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275195 SCV001460060 likely benign Charlevoix-Saguenay spastic ataxia 2020-04-29 no assertion criteria provided clinical testing

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