ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1830C>T (p.Leu610=)

gnomAD frequency: 0.00004  dbSNP: rs746099594
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000584949 SCV000533238 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085526 SCV000562812 likely benign Hereditary spastic paraplegia 7 2024-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000584949 SCV000692883 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SPG7: BP4, BP7

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