ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.806+13_806+16del

dbSNP: rs369977700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343649 SCV000448729 uncertain significance Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000343649 SCV002409747 benign Aspartylglucosaminuria 2024-01-31 criteria provided, single submitter clinical testing

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