ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.264C>T (p.Ile88=)

gnomAD frequency: 0.00003  dbSNP: rs200946909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441441 SCV000527205 likely benign not specified 2016-05-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002521758 SCV003520248 likely benign PGM1-congenital disorder of glycosylation 2022-08-22 criteria provided, single submitter clinical testing

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