ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1210-34TG[10] (rs3832534)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000507070 SCV000060171 benign not specified 2015-04-29 criteria provided, single submitter clinical testing c.1210-14_1210-13delTG in intron 9 of CFTR: This variant is not expected to have clinical significance because it has been identified in 47% (582/3375) of Afric an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti; dbSNP rs3832534).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507070 SCV000602978 benign not specified 2018-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000507070 SCV000729761 benign not specified 2018-03-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CFTR-France RCV001009358 SCV001169211 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001172257 SCV001170542 likely benign Inborn genetic diseases 2018-10-11 criteria provided, single submitter clinical testing Other strong data

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