ClinVar Miner

Submissions for variant NM_001105247.2(ARMC5):c.968G>A (p.Gly323Asp)

dbSNP: rs35461188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine Laboratory, University of Brescia RCV002271676 SCV002072503 likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2 2021-09-01 no assertion criteria provided clinical testing

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