ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) (rs200407907)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239180 SCV000297054 uncertain significance not specified 2015-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290737 SCV000358640 uncertain significance Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340998 SCV000358641 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000902901 SCV001047342 likely benign not provided 2018-07-29 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000290737 SCV000606925 not provided Congenital disorder of glycosylation type 1t no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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