ClinVar Miner

Submissions for variant NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser)

gnomAD frequency: 0.00001  dbSNP: rs765487627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000210075 SCV000266000 pathogenic Sideroblastic anemia 3 2018-07-26 no assertion criteria provided literature only

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