ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.756_758del (p.Gln252_Phe253delinsHis)

dbSNP: rs2485880314
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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 RCV003142303 SCV003807807 uncertain significance Fanconi anemia complementation group U 2022-03-31 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM4

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