ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.290-10T>C

gnomAD frequency: 0.00081  dbSNP: rs192850081
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250141 SCV000311778 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000250141 SCV000597925 likely benign not specified 2016-09-23 criteria provided, single submitter clinical testing
Invitae RCV000651507 SCV000773359 benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699091 SCV001926544 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699091 SCV001967216 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000651507 SCV002085776 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2019-12-09 no assertion criteria provided clinical testing

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