ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)

dbSNP: rs312262774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005007933 SCV005637871 likely pathogenic Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2024-05-10 criteria provided, single submitter clinical testing
GeneReviews RCV000034235 SCV000058174 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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