ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)

gnomAD frequency: 0.02054  dbSNP: rs80338869
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000034258 SCV000290931 benign Hereditary spastic paraplegia 11 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000421146 SCV000523694 benign not specified 2016-03-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000034258 SCV000743942 benign Hereditary spastic paraplegia 11 2014-10-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000034258 SCV001277056 uncertain significance Hereditary spastic paraplegia 11 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847639 SCV002105775 benign Hereditary spastic paraplegia 2021-06-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000034258 SCV000745902 likely benign Hereditary spastic paraplegia 11 2017-06-22 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000421146 SCV001808714 benign not specified no assertion criteria provided clinical testing

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