ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2278T>C (p.Leu760=)

gnomAD frequency: 0.00001  dbSNP: rs770454726
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 RCV001494678 SCV001699339 likely benign Spastic paraplegia 2023-08-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405689 SCV004136817 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SACS: BP4, BP7
Natera, Inc. RCV001826329 SCV002086721 likely benign Charlevoix-Saguenay spastic ataxia 2021-07-13 no assertion criteria provided clinical testing

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