ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.225G>A (p.Lys75=)

gnomAD frequency: 0.00001  dbSNP: rs866818130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697348 SCV000715531 likely benign not provided 2018-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000892670 SCV001036561 likely benign Hereditary spastic paraplegia 49 2024-03-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001697348 SCV005211466 likely benign not provided criteria provided, single submitter not provided

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