ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)

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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 RCV003064556 SCV003443117 benign Spastic paraplegia 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV003313301 SCV004012771 uncertain significance not provided 2023-01-10 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

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