ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6954T>G (p.Ala2318=)

gnomAD frequency: 0.00001  dbSNP: rs1481828108
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002824180 SCV003203085 likely benign Spastic paraplegia 2023-01-21 criteria provided, single submitter clinical testing

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