ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile)

gnomAD frequency: 0.00001  dbSNP: rs606231290
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144950 SCV000191966 pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2014-10-30 no assertion criteria provided literature only

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