ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)

gnomAD frequency: 0.00001  dbSNP: rs763060505
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517770 SCV000615406 uncertain significance not specified 2017-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851462 SCV002196129 likely benign Hereditary spastic paraplegia 11 2024-01-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467849 SCV002764105 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467850 SCV002764107 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001851462 SCV002764108 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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