ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2967G>A (p.Thr989=)

gnomAD frequency: 0.00003  dbSNP: rs1345090533
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 RCV001278898 SCV001645095 likely benign Hereditary spastic paraplegia 49 2023-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278898 SCV001465944 uncertain significance Hereditary spastic paraplegia 49 2020-04-17 no assertion criteria provided clinical testing

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