ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.884G>A (p.Arg295His)

gnomAD frequency: 0.00003  dbSNP: rs28928906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000015423 SCV002785009 likely pathogenic MPI-congenital disorder of glycosylation 2021-10-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000015423 SCV004193275 likely pathogenic MPI-congenital disorder of glycosylation 2023-10-04 criteria provided, single submitter clinical testing
OMIM RCV000015423 SCV000035686 pathogenic MPI-congenital disorder of glycosylation 2002-11-01 no assertion criteria provided literature only

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