ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2508T>C (p.Tyr836=)

dbSNP: rs770468335
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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 RCV001497974 SCV001702714 likely benign Hereditary spastic paraplegia 11 2023-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809649 SCV005435439 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing SPG11: BP4, BP7

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