ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.110C>G (p.Pro37Arg)

dbSNP: rs561744467
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941641 SCV001087534 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000941641 SCV001779363 likely benign not provided 2020-09-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274955 SCV001459543 benign Myopathy, lactic acidosis, and sideroblastic anemia 1 2020-05-20 no assertion criteria provided clinical testing

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