ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr)

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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 RCV002626401 SCV002964686 likely benign Spastic paraplegia 2023-09-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790229 SCV005408448 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing PM2_moderate

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