ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4116G>A (p.Leu1372=)

gnomAD frequency: 0.00001  dbSNP: rs763115113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409083 SCV001611094 likely benign Hereditary spastic paraplegia 11 2018-05-01 criteria provided, single submitter clinical testing

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