ClinVar Miner

Submissions for variant NM_001322059.2(PDE1C):c.471G>A (p.Glu157=)

gnomAD frequency: 0.43760  dbSNP: rs977626
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001657605 SCV001866199 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788701 SCV002029494 benign Hearing loss, autosomal dominant 74 2021-09-05 criteria provided, single submitter clinical testing

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