ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer)

dbSNP: rs1560950739
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761415 SCV000891473 pathogenic Aspartylglucosaminuria 2017-12-30 criteria provided, single submitter curation

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