ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)

gnomAD frequency: 0.00002  dbSNP: rs779973547
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 RCV001341618 SCV001535500 likely benign Spastic paraplegia 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836330 SCV002086223 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-03-10 no assertion criteria provided clinical testing

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