ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1683G>A (p.Val561=)

gnomAD frequency: 0.00001  dbSNP: rs1485932032
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 RCV000929475 SCV001075106 likely benign Spastic paraplegia 2023-10-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826940 SCV002086732 likely benign Charlevoix-Saguenay spastic ataxia 2020-10-12 no assertion criteria provided clinical testing

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