ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4161+9C>G

dbSNP: rs1555451101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544562 SCV000642235 likely benign Hereditary spastic paraplegia 11 2023-01-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848945 SCV002105715 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467866 SCV002763922 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467867 SCV002763923 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000544562 SCV002763924 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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