ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)

gnomAD frequency: 0.00001  dbSNP: rs74315491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015948 SCV000036215 pathogenic Agammaglobulinemia 2, autosomal recessive 1998-01-05 no assertion criteria provided literature only

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