ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13119C>T (p.Asp4373=)

gnomAD frequency: 0.00001  dbSNP: rs368124828
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 RCV000869013 SCV001010404 likely benign Spastic paraplegia 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835993 SCV002086124 likely benign Charlevoix-Saguenay spastic ataxia 2020-10-24 no assertion criteria provided clinical testing

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