ClinVar Miner

Submissions for variant NM_001063.4(TF):c.956A>G (p.His319Arg) (rs41295774)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000390823 SCV000441225 uncertain significance Atransferrinemia 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000013449 SCV000033696 pathogenic Transferrin variant chi 1984-05-01 no assertion criteria provided literature only

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