ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.144+20T>A

gnomAD frequency: 0.00434  dbSNP: rs190812626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799854 SCV002043854 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074144 SCV002405917 benign MPI-congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing

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