ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.75-5C>T

gnomAD frequency: 0.00003  dbSNP: rs1363622622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000977405 SCV001125321 likely benign not provided 2024-04-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832245 SCV002091054 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 2020-03-12 no assertion criteria provided clinical testing

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