ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.744A>G (p.Ala248=)

dbSNP: rs1448438600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663561 SCV001880437 uncertain significance not provided 2021-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073094 SCV002417652 likely benign Spastic paraplegia 2023-12-09 criteria provided, single submitter clinical testing

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