ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1664-15C>A

gnomAD frequency: 0.01888  dbSNP: rs80292600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128204 SCV000171796 benign not specified 2014-04-17 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.
Illumina Laboratory Services, Illumina RCV001121646 SCV001280286 benign Hereditary spastic paraplegia 7 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001121646 SCV002466753 benign Hereditary spastic paraplegia 7 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001121646 SCV002798987 likely benign Hereditary spastic paraplegia 7 2022-04-28 criteria provided, single submitter clinical testing

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