ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3603G>A (p.Thr1201=)

gnomAD frequency: 0.00001  dbSNP: rs773460001
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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 RCV001403655 SCV001605530 likely benign Hereditary spastic paraplegia 49 2024-02-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847082 SCV002105949 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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