ClinVar Miner

Submissions for variant NM_000476.3(AK1):c.367G>C (p.Glu123Gln)

gnomAD frequency: 0.02507  dbSNP: rs8192462
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455455 SCV000538257 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755798 SCV000883377 benign Hemolytic anemia due to adenylate kinase deficiency 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001672750 SCV001884699 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001672750 SCV002399320 benign not provided 2025-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672750 SCV005315921 benign not provided criteria provided, single submitter not provided

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