ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.417-19T>G

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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 RCV003602179 SCV004430845 likely benign Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2023-07-24 criteria provided, single submitter clinical testing

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