ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)

gnomAD frequency: 0.00002  dbSNP: rs375722463
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207368 SCV001378714 likely benign Spastic paraplegia 2024-01-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001833823 SCV003820621 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833823 SCV002086119 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-05-28 no assertion criteria provided clinical testing

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