ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) (rs35516286)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755490 SCV000603005 benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Counsyl RCV000047138 SCV000790922 likely benign Cystic fibrosis 2017-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079009 SCV000110878 benign not specified 2012-08-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000047138 SCV000466503 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000047138 SCV000075151 benign Cystic fibrosis 2017-12-11 criteria provided, single submitter clinical testing
Mendelics RCV000047138 SCV000886144 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079009 SCV000304500 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000047138 SCV000803630 uncertain significance Cystic fibrosis 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Conflicting Evidence, for Cystic fibrosis, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: PS3 => Well-established functional studies show a deleterious effect (PMID:16822950,11242048). BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BP2 => Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern (PMID:12394343).

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