ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.171C>G (p.Leu57=)

gnomAD frequency: 0.00001  dbSNP: rs765658697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430870 SCV001633617 likely benign Hereditary spastic paraplegia 49 2020-11-25 criteria provided, single submitter clinical testing

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