ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.1552C>G (p.His518Asp)

gnomAD frequency: 0.46014  dbSNP: rs3734311
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001511799 SCV001719102 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001511799 SCV001870834 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730761 SCV001980990 benign Vitelliform macular dystrophy 4 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730760 SCV001981001 benign Benign concentric annular macular dystrophy 2021-08-19 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888243 SCV004704709 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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