ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.606T>C (p.Ser202=)

gnomAD frequency: 0.00061  dbSNP: rs140791062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610616 SCV000718821 likely benign not specified 2018-03-14 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 RCV000862126 SCV001002581 likely benign Hereditary spastic paraplegia 49 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848988 SCV002105967 uncertain significance Hereditary spastic paraplegia 2019-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000862126 SCV001456107 likely benign Hereditary spastic paraplegia 49 2020-09-16 no assertion criteria provided clinical testing

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