ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)

gnomAD frequency: 0.00003  dbSNP: rs774349752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261950 SCV002541565 uncertain significance not provided 2021-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588791 SCV004337445 likely benign Spastic paraplegia 2024-01-20 criteria provided, single submitter clinical testing

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