ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.958G>A (p.Val320Ile)

gnomAD frequency: 0.93726  dbSNP: rs1309353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437650 SCV000519645 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001273263 SCV001729058 benign Hereditary spastic paraplegia 49 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273263 SCV001755025 benign Hereditary spastic paraplegia 49 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715159 SCV005294149 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273263 SCV001456110 benign Hereditary spastic paraplegia 49 2020-09-16 no assertion criteria provided clinical testing

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