ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.120del (p.Ile40fs)

dbSNP: rs1057516466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411654 SCV000485722 likely pathogenic MPI-congenital disorder of glycosylation 2016-02-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411654 SCV004193710 likely pathogenic MPI-congenital disorder of glycosylation 2023-05-04 criteria provided, single submitter clinical testing

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