ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.110A>G (p.His37Arg)

dbSNP: rs1170598133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542478 SCV001760271 likely pathogenic Glycogen storage disease, type V no assertion criteria provided clinical testing

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