ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.-260G>C

gnomAD frequency: 0.16933  dbSNP: rs2304849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381550 SCV000407247 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352096 SCV000483694 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001643014 SCV001856584 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001643014 SCV005214219 likely benign not provided criteria provided, single submitter not provided

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