ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6278G>A (p.Arg2093His)

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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 RCV002895363 SCV003243860 benign Spastic paraplegia 2024-03-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790267 SCV005408461 uncertain significance not provided 2024-04-23 criteria provided, single submitter clinical testing PM2

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