ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.595C>T (p.His199Tyr) (rs121908802)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056399 SCV000071504 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056399 SCV000487061 likely pathogenic Cystic fibrosis 2016-09-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000056399 SCV000697036 pathogenic Cystic fibrosis 2017-06-13 criteria provided, single submitter clinical testing Variant summary: The CFTR c.595C>T (p.His199Tyr) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution that lies within the ABC transporter type 1, transmembrane domain (InterPro). 4/5 in silico tools predict a damaging outcome for this variant. This variant is absent from the large control database ExAC (0/121410 control chromosomes). The variant has been identified in numerous cystic fibrosis patients. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic/likely pathogenic. Taken together, this variant is classified as pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755925 SCV000883601 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763155 SCV000893742 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 2018-10-31 criteria provided, single submitter clinical testing

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