ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.912T>G (p.Ala304=)

dbSNP: rs138749872
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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 RCV000259399 SCV000380171 uncertain significance Glucocorticoid deficiency with achalasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000966397 SCV001113715 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966397 SCV004702602 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing AAAS: BP4, BP7

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