ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.1047C>T (p.Asn349=)

gnomAD frequency: 0.00057  dbSNP: rs145061048
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894863 SCV001038873 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000894863 SCV001858829 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894863 SCV004136678 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PUS1: BP4, BP7
Natera, Inc. RCV001276805 SCV001463354 likely benign Inborn mitochondrial myopathy; Sideroblastic anemia 2020-09-16 no assertion criteria provided clinical testing

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