ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)

gnomAD frequency: 0.00001  dbSNP: rs75763344
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577297 SCV000791000 uncertain significance Cystic fibrosis 2017-04-18 criteria provided, single submitter clinical testing
Mendelics RCV000577297 SCV000886348 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004243 SCV001163119 likely pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093485 SCV001250503 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Invitae RCV000577297 SCV001577168 likely pathogenic Cystic fibrosis 2021-09-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000577297 SCV001822027 likely pathogenic Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577297 SCV000679191 not provided Cystic fibrosis no assertion provided literature only
Natera, Inc. RCV001826703 SCV002078159 likely pathogenic CFTR-related disorders 2018-08-28 no assertion criteria provided clinical testing

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