ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2445-20del

dbSNP: rs374899647
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000625504 SCV001721719 benign Hereditary spastic paraplegia 11 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001653958 SCV001868834 benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467944 SCV002764053 benign Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467945 SCV002764054 benign Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625504 SCV002764055 benign Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625504 SCV000745911 benign Hereditary spastic paraplegia 11 2016-12-01 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701420 SCV001921871 benign not specified no assertion criteria provided clinical testing

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