ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.610G>A (p.Ala204Thr)

gnomAD frequency: 0.00010  dbSNP: rs780799275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001494402 SCV001699058 likely benign Glycogen storage disease, type II 2024-01-08 criteria provided, single submitter clinical testing
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV001494402 SCV003762178 uncertain significance Glycogen storage disease, type II criteria provided, single submitter clinical testing

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