ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.622+13T>C

gnomAD frequency: 0.01039  dbSNP: rs75260482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000302962 SCV000448734 uncertain significance Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000302962 SCV001728448 benign Aspartylglucosaminuria 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001591006 SCV001814460 likely benign not provided 2018-10-17 criteria provided, single submitter clinical testing

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