ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.987C>T (p.Pro329=)

gnomAD frequency: 0.00038  dbSNP: rs150880557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897476 SCV001041622 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274961 SCV001459553 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 1 2020-05-20 no assertion criteria provided clinical testing

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