ClinVar Miner

Submissions for variant NM_000921.5(PDE3A):c.1512T>A (p.His504Gln)

dbSNP: rs116851432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002136934 SCV002401906 benign not provided 2023-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913748 SCV004740957 likely benign PDE3A-related disorder 2019-10-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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