ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.1701G>A (p.Ala567=)

gnomAD frequency: 0.00016  dbSNP: rs377365764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000927642 SCV001073230 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000927642 SCV002556761 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2021-01-19 criteria provided, single submitter clinical testing

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