ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.883C>T (p.Arg295Trp)

gnomAD frequency: 0.00001  dbSNP: rs869025309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000207447 SCV005634214 likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 2024-02-15 criteria provided, single submitter clinical testing
OMIM RCV000207447 SCV000262714 pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 2020-08-12 no assertion criteria provided literature only

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