ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1742del (p.Cys581fs)

dbSNP: rs1592409631
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991439 SCV001142836 likely pathogenic Glycogen storage disease, type V 2019-06-20 criteria provided, single submitter clinical testing

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