ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.42G>A (p.Ala14=)

gnomAD frequency: 0.00001  dbSNP: rs778761991
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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 RCV001458068 SCV001661883 likely benign Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2021-10-14 criteria provided, single submitter clinical testing

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