ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp)

gnomAD frequency: 0.00001  dbSNP: rs748019294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305843 SCV000339103 uncertain significance not provided 2016-02-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000305843 SCV004225771 likely pathogenic not provided 2023-01-20 criteria provided, single submitter clinical testing PP4, PM2, PM3

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