ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr)

dbSNP: rs2146057214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730052 SCV001976828 likely pathogenic Iron-refractory iron deficiency anemia 2021-10-05 criteria provided, single submitter clinical testing PM2, PP2, PP3, PP4

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