ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)

dbSNP: rs397508198
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009443 SCV001169480 pathogenic Cystic fibrosis 2015-07-03 criteria provided, single submitter curation
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197496 SCV001368262 pathogenic Hereditary pancreatitis 2019-10-03 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3.
Sema4, Sema4 RCV001197496 SCV002529675 likely pathogenic Hereditary pancreatitis 2021-06-11 criteria provided, single submitter curation
Arcensus RCV001009443 SCV002564584 likely pathogenic Cystic fibrosis 2013-02-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357911 SCV001553511 uncertain significance not provided no assertion criteria provided clinical testing

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