ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3171C>T (p.Pro1057=)

gnomAD frequency: 0.00006  dbSNP: rs749964386
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 RCV000868175 SCV001009474 likely benign Hereditary spastic paraplegia 49 2024-04-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868175 SCV001465948 likely benign Hereditary spastic paraplegia 49 2020-09-23 no assertion criteria provided clinical testing

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