ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser)

gnomAD frequency: 0.00009  dbSNP: rs150165045
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 RCV000866302 SCV001007380 likely benign Hereditary spastic paraplegia 49 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000866302 SCV002088011 benign Hereditary spastic paraplegia 49 2020-02-14 no assertion criteria provided clinical testing

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