ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.3483C>T (p.Val1161=)

gnomAD frequency: 0.00003  dbSNP: rs776024444
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 RCV001413340 SCV001615452 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888120 SCV004705095 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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