ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.1605C>A (p.Thr535=)

dbSNP: rs782478918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001454964 SCV001658703 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2020-08-20 criteria provided, single submitter clinical testing

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