ClinVar Miner

Submissions for variant NM_001191057.4(PDE1C):c.525C>T (p.Ser175=)

gnomAD frequency: 0.00897  dbSNP: rs76290787
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000880200 SCV001023279 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501370 SCV002796452 likely benign Hearing loss, autosomal dominant 74 2022-01-13 criteria provided, single submitter clinical testing

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