ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.1493+18T>C

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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 RCV003742288 SCV004458843 likely benign Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2023-04-25 criteria provided, single submitter clinical testing

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