ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3540G>A (p.Ala1180=)

gnomAD frequency: 0.00001  dbSNP: rs368289607
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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 RCV002211978 SCV002353816 likely benign Hereditary spastic paraplegia 49 2024-08-14 criteria provided, single submitter clinical testing

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