ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)

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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 RCV002474403 SCV002770987 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003108122 SCV003780611 benign Spastic paraplegia 2024-01-30 criteria provided, single submitter clinical testing

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