ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg)

dbSNP: rs2142308428
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244087 SCV002512355 uncertain significance Brittle cornea syndrome 1 2022-02-01 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4

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