ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.1626-4T>G

dbSNP: rs1327671540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809197 SCV000949340 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2022-11-28 criteria provided, single submitter clinical testing

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