ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter)

dbSNP: rs779193823
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center, Location AMC RCV000853196 SCV000995055 pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 2019-10-08 no assertion criteria provided clinical testing

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