ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro)

dbSNP: rs1485073209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002227831 SCV002506977 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency criteria provided, single submitter clinical testing

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