ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1892-6C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002408044 SCV002722509 uncertain significance Inborn genetic diseases 2021-07-23 criteria provided, single submitter clinical testing The c.1892-6C>T intronic variant results from a C to T substitution 6 nucleotides upstream from coding exon 10 in the SPG11 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003097330 SCV003251611 likely benign Hereditary spastic paraplegia 11 2023-10-17 criteria provided, single submitter clinical testing

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