ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.4032C>T (p.Pro1344=)

gnomAD frequency: 0.00004  dbSNP: rs764511150
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394837 SCV001596527 likely benign Hereditary spastic paraplegia 49 2024-09-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405641 SCV004135235 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing TECPR2: BP4, BP7

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