ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1054del

dbSNP: rs752976348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668282 SCV000792856 uncertain significance MPI-congenital disorder of glycosylation 2017-07-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668282 SCV004193718 likely pathogenic MPI-congenital disorder of glycosylation 2023-01-08 criteria provided, single submitter clinical testing

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