ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.1023A>G (p.Glu341=)

gnomAD frequency: 0.00929  dbSNP: rs113407270
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291103 SCV000448728 uncertain significance Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000291103 SCV001115505 benign Aspartylglucosaminuria 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706561 SCV001872868 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706561 SCV004151841 benign not provided 2023-09-01 criteria provided, single submitter clinical testing AGA: BP4, BS1, BS2
Natera, Inc. RCV000291103 SCV001457034 benign Aspartylglucosaminuria 2020-04-16 no assertion criteria provided clinical testing

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