ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.951+18A>G

gnomAD frequency: 0.35713  dbSNP: rs4906197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445250 SCV000519720 benign not specified 2016-01-22 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-Nilou Lab RCV001538032 SCV001755024 benign Hereditary spastic paraplegia 49 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001538032 SCV002388075 benign Hereditary spastic paraplegia 49 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715160 SCV005294148 benign not provided criteria provided, single submitter not provided

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