ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3200A>G (p.Asn1067Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003588193 SCV004283989 likely benign Spastic paraplegia 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005013017 SCV005634307 uncertain significance Charlevoix-Saguenay spastic ataxia 2024-04-04 criteria provided, single submitter clinical testing

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