ClinVar Miner

Submissions for variant NM_001104631.2(PDE4D):c.1288-8dup

dbSNP: rs143090133
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224111 SCV000281430 likely benign not provided 2016-02-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV000359650 SCV000457998 likely benign Acrodysostosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000224111 SCV001102044 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000224111 SCV001826997 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing

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