ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1614C>T (p.Pro538=)

gnomAD frequency: 0.00001  dbSNP: rs775453982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002103246 SCV002385962 likely benign PGM1-congenital disorder of glycosylation 2024-01-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711799 SCV005258531 likely benign not provided criteria provided, single submitter not provided

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