ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.1176A>G (p.Gln392=)

gnomAD frequency: 0.00065  dbSNP: rs117336150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541127 SCV000652438 benign Hereditary spastic paraplegia 53 2023-12-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848965 SCV002105981 likely benign Hereditary spastic paraplegia 2019-06-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729640 SCV001977917 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729640 SCV001980644 likely benign not provided no assertion criteria provided clinical testing

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