ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.977C>G (p.Pro326Arg)

gnomAD frequency: 0.00014  dbSNP: rs199956743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001277750 SCV001464719 likely benign MPI-congenital disorder of glycosylation 2020-11-10 no assertion criteria provided clinical testing

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