ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)

gnomAD frequency: 0.00002  dbSNP: rs770007806
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 RCV001225970 SCV001398264 likely benign Spastic paraplegia 2023-10-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847199 SCV002105048 uncertain significance Hereditary spastic paraplegia 2018-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828802 SCV002086267 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-02-26 no assertion criteria provided clinical testing

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