ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4695T>C (p.His1565=)

dbSNP: rs2542278074
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002770398 SCV003026927 likely benign Spastic paraplegia 2024-11-16 criteria provided, single submitter clinical testing

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