ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.879A>G (p.Ser293=)

gnomAD frequency: 0.00001  dbSNP: rs770891190
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
Invitae RCV001275807 SCV001607378 likely benign Hereditary spastic paraplegia 49 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275807 SCV001461368 uncertain significance Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing

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