ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.930C>T (p.Asp310=)

gnomAD frequency: 0.00001  dbSNP: rs779449885
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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 RCV001310346 SCV001500102 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing SPG7: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003617923 SCV004534943 likely benign Hereditary spastic paraplegia 7 2024-11-10 criteria provided, single submitter clinical testing

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