ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.2409T>C (p.Asn803=)

gnomAD frequency: 0.00003  dbSNP: rs200002559
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 RCV002135789 SCV002451643 likely benign not provided 2024-05-10 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889081 SCV004706426 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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