ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1125C>T (p.Val375=)

gnomAD frequency: 0.00011  dbSNP: rs144187959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001486560 SCV001691020 likely benign Hereditary spastic paraplegia 49 2024-03-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847282 SCV002105903 uncertain significance Hereditary spastic paraplegia 2017-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584914 SCV005075098 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing TECPR2: PM2, BP4

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