ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=)

gnomAD frequency: 0.00035  dbSNP: rs199835341
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862353 SCV001002849 benign Hereditary spastic paraplegia 49 2024-05-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240647 SCV005885226 likely benign not specified 2025-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000862353 SCV001461384 uncertain significance Hereditary spastic paraplegia 49 2020-02-13 no assertion criteria provided clinical testing

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