ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=)

gnomAD frequency: 0.00010  dbSNP: rs757779692
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 RCV000904485 SCV001049005 likely benign Hereditary spastic paraplegia 49 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904485 SCV001454404 uncertain significance Hereditary spastic paraplegia 49 2020-04-17 no assertion criteria provided clinical testing

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