ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1187A>C (p.Asn396Thr) (rs1396443734)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587466 SCV000696823 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1187A>C (p.Asn396Thr) variant causes a missense change involving a conserved nucleotide, which 4/5 in silico tools predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or databases/clinical diagnostic laboratories. Therefore, until additional information (ie, clinical and functional studies) become available, the variant of interest has been classified as a "Variant of Uncertain Significance."
Fulgent Genetics,Fulgent Genetics RCV000765925 SCV000897345 uncertain significance 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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