ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4122C>T (p.Phe1374=)

gnomAD frequency: 0.00002  dbSNP: rs1194478318
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311029 SCV001501051 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001437622 SCV001640480 likely benign Hereditary spastic paraplegia 11 2024-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468220 SCV002763925 likely benign Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468221 SCV002763926 likely benign Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001437622 SCV002763927 likely benign Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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