ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)

gnomAD frequency: 0.00016  dbSNP: rs747973076
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642552 SCV000764238 likely benign Hereditary spastic paraplegia 11 2024-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508756 SCV001715103 uncertain significance not provided 2019-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467956 SCV002763903 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467957 SCV002763904 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000642552 SCV002763905 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530011 SCV003676277 likely benign Inborn genetic diseases 2022-12-14 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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