ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2041-4G>T

gnomAD frequency: 0.00008  dbSNP: rs775757700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528470 SCV000626539 likely benign Glycogen storage disease, type II 2024-10-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732711 SCV000860691 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000528470 SCV002027286 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000528470 SCV002092091 uncertain significance Glycogen storage disease, type II 2020-10-01 no assertion criteria provided clinical testing

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