ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2322A>G (p.Pro774=)

dbSNP: rs1869225328
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 RCV001413369 SCV001615481 likely benign Spastic paraplegia 2020-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278832 SCV001465874 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-08-13 no assertion criteria provided clinical testing

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