ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1280+7C>T

gnomAD frequency: 0.02627  dbSNP: rs72922610
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332888 SCV000358652 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382749 SCV000358653 likely benign PGM1-congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000429994 SCV000520695 benign not specified 2016-03-15 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 RCV000382749 SCV000649253 benign PGM1-congenital disorder of glycosylation 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675307 SCV005258527 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675307 SCV000800972 benign not provided 2017-03-14 no assertion criteria provided clinical testing

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