ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1173T>A (p.Ser391=)

dbSNP: rs150683286
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
Counsyl RCV000666880 SCV000791248 likely benign Charlevoix-Saguenay spastic ataxia 2017-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532057 SCV003326521 likely benign Spastic paraplegia 2023-06-27 criteria provided, single submitter clinical testing

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