ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4182T>C (p.Asp1394=) (rs763937782)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755918 SCV000883584 likely benign not provided 2018-03-15 criteria provided, single submitter clinical testing The CFTR c.4182T>C; p.Asp1394Asp variant (rs763937782), to our knowledge, is not reported in the medical literature. This variant is found in the general population with an overall allele frequency of 0.002% (6/276286 alleles) in the Genome Aggregation Database. This is a synonymous change, the nucleotide is weakly conserved, and computational algorithms (Alamut v2.11) do not predict this variant to affect splicing. Based on available information, this variant is considered to be likely benign.
Ambry Genetics RCV001022001 SCV001183688 likely benign Inborn genetic diseases 2019-01-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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