ClinVar Miner

Submissions for variant NM_000921.5(PDE3A):c.1801C>A (p.Pro601Thr)

gnomAD frequency: 0.00204  dbSNP: rs151312475
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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 RCV000957052 SCV001103846 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000957052 SCV004168290 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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