ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11535A>G (p.Glu3845=)

gnomAD frequency: 0.00001  dbSNP: rs750167647
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 RCV001506234 SCV001711153 likely benign Spastic paraplegia 2022-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832673 SCV002086150 likely benign Charlevoix-Saguenay spastic ataxia 2021-07-20 no assertion criteria provided clinical testing

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