ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.9G>A (p.Ser3=)

gnomAD frequency: 0.00002  dbSNP: rs757589409
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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 RCV002104845 SCV002383646 likely benign Hereditary spastic paraplegia 49 2023-08-20 criteria provided, single submitter clinical testing

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