ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4149T>C (p.His1383=)

gnomAD frequency: 0.00001  dbSNP: rs749219225
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 RCV000633019 SCV000754231 likely benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275197 SCV001460064 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-12 no assertion criteria provided clinical testing

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