ClinVar Miner

Submissions for variant NM_018206.6(VPS35):c.1938C>T (p.His646=)

gnomAD frequency: 0.97484  dbSNP: rs168745
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515378 SCV001723436 benign Parkinson disease 17 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715447 SCV005289675 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529449 SCV001742928 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529449 SCV001808770 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529449 SCV001974757 benign not specified no assertion criteria provided clinical testing

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