ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)

gnomAD frequency: 0.00001  dbSNP: rs146240471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336696 SCV001530147 uncertain significance Amyotrophic lateral sclerosis type 5 2018-03-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003495243 SCV004306863 likely benign Hereditary spastic paraplegia 11 2024-08-30 criteria provided, single submitter clinical testing

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