ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.1065G>A (p.Pro355=)

dbSNP: rs147555676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944859 SCV001090841 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000944859 SCV004136679 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing PUS1: BP4, BP7
Natera, Inc. RCV001274962 SCV001459555 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 1 2020-05-20 no assertion criteria provided clinical testing

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