ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1394C>A (p.Thr465Asn) (rs758900656)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586527 SCV000696840 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV001003496 SCV000994913 likely pathogenic Cystic fibrosis 2019-09-30 criteria provided, single submitter clinical testing Identified in combination with F508del in two affected siblings
Baylor Genetics RCV001004450 SCV001163495 likely pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000586527 SCV001714235 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001003496 SCV001822051 uncertain significance Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing

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