ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) (rs143759519)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625936 SCV000746525 uncertain significance Glycogen storage disease, type VI 2017-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000625936 SCV000896401 uncertain significance Glycogen storage disease, type VI 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000625936 SCV001105556 likely benign Glycogen storage disease, type VI 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000625936 SCV001139455 uncertain significance Glycogen storage disease, type VI 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625936 SCV001271641 uncertain significance Glycogen storage disease, type VI 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute of Human Genetics, University of Leipzig Medical Center RCV000625936 SCV001439985 uncertain significance Glycogen storage disease, type VI 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Baylor Genetics RCV000625936 SCV001522874 uncertain significance Glycogen storage disease, type VI 2019-11-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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