ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.299G>A (p.Gly100Glu) (rs386833421)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049349 SCV000220598 likely pathogenic Aspartylglucosaminuria 2014-08-18 criteria provided, single submitter literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049349 SCV000081781 probable-pathogenic Aspartylglucosaminuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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