ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1888+21G>A

gnomAD frequency: 0.05276  dbSNP: rs2304837
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251838 SCV000302670 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000671177 SCV000796128 benign Glycogen storage disease, type II 2017-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000671177 SCV001738043 benign Glycogen storage disease, type II 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000675234 SCV001859495 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675234 SCV005248752 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675234 SCV000800880 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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