ClinVar Miner

Submissions for variant NM_000027.3(AGA):c.807_940del134 (rs386833437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000251 SCV000220824 likely pathogenic Aspartylglucosaminuria 2014-10-21 criteria provided, single submitter literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000000251 SCV000081797 probable-pathogenic Aspartylglucosaminuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000000251 SCV000020395 pathogenic Aspartylglucosaminuria 1991-12-15 no assertion criteria provided literature only

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