ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1677T>C (p.Ser559=)

gnomAD frequency: 0.00024  dbSNP: rs375017422
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 RCV001455459 SCV001659219 likely benign Hereditary spastic paraplegia 49 2024-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001455459 SCV002091111 likely benign Hereditary spastic paraplegia 49 2019-10-23 no assertion criteria provided clinical testing

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