ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1296G>A (p.Thr432=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003413055 SCV004143557 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing SPG7: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778395 SCV004676772 likely benign Hereditary spastic paraplegia 7 2023-04-13 criteria provided, single submitter clinical testing

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