ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)

gnomAD frequency: 0.00245  dbSNP: rs149584733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606857 SCV000721740 likely benign not specified 2017-08-07 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 RCV000862492 SCV001003005 benign Hereditary spastic paraplegia 49 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848992 SCV002105912 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000862492 SCV002088009 likely benign Hereditary spastic paraplegia 49 2019-12-10 no assertion criteria provided clinical testing

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