ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2164A>G (p.Met722Val)

dbSNP: rs754771000
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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 RCV002244149 SCV002512465 uncertain significance Fanconi anemia complementation group Q 2021-03-24 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting

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