ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3729A>G (p.Glu1243=)

gnomAD frequency: 0.00005  dbSNP: rs756663705
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 RCV000873926 SCV001016028 likely benign Spastic paraplegia 2023-09-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277260 SCV001464170 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-10 no assertion criteria provided clinical testing

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