ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.973G>A (p.Val325Met)

gnomAD frequency: 0.00001  dbSNP: rs1156671661
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323842 SCV004029727 uncertain significance not specified 2023-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277399 SCV001464348 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 2020-08-16 no assertion criteria provided clinical testing

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