ClinVar Miner

Submissions for variant NM_001621.5(AHR):c.1861C>T (p.Gln621Ter)

dbSNP: rs1562482694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000786023 SCV000924664 likely pathogenic Infantile nystagmus with foveal hypoplasia 2017-12-13 no assertion criteria provided research

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