ClinVar Miner

Submissions for variant NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)

gnomAD frequency: 0.00011  dbSNP: rs771254375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490291 SCV000267441 likely pathogenic Pigmented nodular adrenocortical disease, primary, 2 2016-03-18 criteria provided, single submitter reference population
Mendelics RCV000490291 SCV002518770 pathogenic Pigmented nodular adrenocortical disease, primary, 2 2022-05-04 criteria provided, single submitter clinical testing

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