ClinVar Miner

Submissions for variant X57331.1:g.275C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Publica Galega de Medicina Xenomica,Servicio Galego de Saude RCV000490540 SCV000537868 pathogenic Agammaglobulinemia, non-Bruton type 2016-04-15 no assertion criteria provided clinical testing Nonsense mutation, premature stop codon. Predicted truncated protein

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