ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002467247 SCV002762434 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002571417 SCV002946433 likely benign Spastic paraplegia 2024-01-08 criteria provided, single submitter clinical testing

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