ClinVar Miner

Submissions for variant NM_001191057.4(PDE1C):c.1773C>T (p.Asn591=)

gnomAD frequency: 0.96972  dbSNP: rs1860790
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 RCV001617243 SCV001846586 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788631 SCV002029492 benign Hearing loss, autosomal dominant 74 2021-09-05 criteria provided, single submitter clinical testing

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