ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4317C>T (p.Thr1439=)

dbSNP: rs1408703691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447058 SCV001650116 likely benign Hereditary spastic paraplegia 11 2023-11-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705935 SCV005214611 likely benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV004997512 SCV005622442 likely benign not specified 2024-07-16 criteria provided, single submitter clinical testing

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