ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5122-6del

dbSNP: rs1379359957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244244 SCV002512655 uncertain significance Charcot-Marie-Tooth disease axonal type 2X 2021-02-17 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003093942 SCV003254551 likely benign Hereditary spastic paraplegia 11 2024-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045175 SCV004955050 likely benign Inborn genetic diseases 2023-11-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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