ClinVar Miner

Submissions for variant NM_033116.6(NEK9):c.326ACA[1] (p.Asn110del)

dbSNP: rs1167437528
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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 RCV002244254 SCV002512673 uncertain significance Congenital omphalocele; Congenital contracture 2021-05-10 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate

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