ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.2132G>A (p.Arg711His)

gnomAD frequency: 0.16006  dbSNP: rs3734313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001421009 SCV001623473 benign Vitelliform macular dystrophy 4 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515477 SCV001723564 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888128 SCV004704693 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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