ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1152T>G (p.Thr384=)

gnomAD frequency: 0.00005  dbSNP: rs185643322
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 RCV000867239 SCV001008442 benign Spastic paraplegia 2024-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278835 SCV001465877 likely benign Charlevoix-Saguenay spastic ataxia 2020-08-31 no assertion criteria provided clinical testing

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