ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.*183A>C

gnomAD frequency: 0.50675  dbSNP: rs1061814
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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 RCV000389140 SCV000448724 benign Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613149 SCV001836651 benign not provided 2018-06-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613149 SCV005305974 benign not provided criteria provided, single submitter not provided

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