ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)

gnomAD frequency: 0.00002  dbSNP: rs200831217
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 RCV001051899 SCV001216081 likely benign Spastic paraplegia 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827327 SCV002086693 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-01-06 no assertion criteria provided clinical testing

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