ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.159C>G (p.Arg53=)

gnomAD frequency: 0.00003  dbSNP: rs968138431
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 RCV001470967 SCV001675067 likely benign Spastic paraplegia 2023-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272281 SCV001454133 likely benign Charlevoix-Saguenay spastic ataxia 2020-01-14 no assertion criteria provided clinical testing

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