ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg)

gnomAD frequency: 0.00840  dbSNP: rs34451260
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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 RCV000343022 SCV000380158 likely benign Glucocorticoid deficiency with achalasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000886859 SCV001030387 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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