ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.369+8T>A

gnomAD frequency: 0.00004  dbSNP: rs201637627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000977183 SCV001125097 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2023-12-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819152 SCV002068409 uncertain significance not specified 2018-02-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000977183 SCV002085780 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2021-01-15 no assertion criteria provided clinical testing

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