ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr)

gnomAD frequency: 0.00331  dbSNP: rs144147210
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467669 SCV000559678 benign Hereditary spastic paraplegia 49 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310727 SCV001500637 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TECPR2: BP4, BS2
GeneDx RCV001310727 SCV001945732 benign not provided 2019-04-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848830 SCV002105936 likely benign Hereditary spastic paraplegia 2018-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000467669 SCV001460235 benign Hereditary spastic paraplegia 49 2020-09-16 no assertion criteria provided clinical testing

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