ClinVar Miner

Submissions for variant NM_012205.3(HAAO):c.21del (p.Arg8fs)

gnomAD frequency: 0.00002  dbSNP: rs1227604776
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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 RCV002244171 SCV002512522 likely pathogenic Vertebral, cardiac, renal, and limb defects syndrome 1 2021-07-13 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2

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