ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.663C>G (p.Thr221=)

gnomAD frequency: 0.00002  dbSNP: rs886049650
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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 RCV000383886 SCV000380176 uncertain significance Glucocorticoid deficiency with achalasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000899336 SCV001043595 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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