ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.1371+9A>T

dbSNP: rs368568806
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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 RCV000935397 SCV001081144 benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2025-01-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818908 SCV002066685 likely benign not specified 2020-11-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000935397 SCV002085800 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2020-05-12 no assertion criteria provided clinical testing

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