ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) (rs6676290)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000336977 SCV000358664 likely benign Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401429 SCV000358665 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000441537 SCV000520696 benign not specified 2016-03-04 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.
Invitae RCV000336977 SCV000649254 benign Congenital disorder of glycosylation type 1t 2017-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675310 SCV000800975 benign not provided 2017-03-14 no assertion criteria provided clinical testing

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