ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1180A>C (p.Arg394=)

gnomAD frequency: 0.00005  dbSNP: rs549744502
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 RCV001500197 SCV001704979 likely benign Hereditary spastic paraplegia 49 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001500197 SCV002088000 benign Hereditary spastic paraplegia 49 2020-12-17 no assertion criteria provided clinical testing

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