ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6586-7T>C

dbSNP: rs1057524222
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436554 SCV000534896 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000509273 SCV002418075 likely benign Hereditary spastic paraplegia 11 2022-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467797 SCV002763693 likely benign Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467798 SCV002763694 likely benign Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000509273 SCV002763696 likely benign Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509273 SCV000607326 not provided Hereditary spastic paraplegia 11 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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