ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1050G>A (p.Thr350=)

gnomAD frequency: 0.00026  dbSNP: rs145431554
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907202 SCV001051892 likely benign MPI-congenital disorder of glycosylation 2024-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000907202 SCV001454932 uncertain significance MPI-congenital disorder of glycosylation 2020-04-19 no assertion criteria provided clinical testing

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