ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.207C>G (p.Leu69=)

gnomAD frequency: 0.00009  dbSNP: rs140067992
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000323379 SCV000377052 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000941579 SCV001087470 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000941579 SCV001790703 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957596 SCV004774459 likely benign PUS1-related condition 2019-07-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000323379 SCV002091057 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 2020-05-15 no assertion criteria provided clinical testing

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