ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.*45del (rs761647766)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000369205 SCV000379835 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755783 SCV000883355 likely benign not provided 2017-05-22 criteria provided, single submitter clinical testing The ACVRL1 c.*45delG variant (rs776770258) is reported in ClinVar (Variation ID 309444), and observed in the general population databases with overall allele frequencies of 0.6 percent (70/11274 alleles) in the Exome Variant Server, and 0.003 percent (4/142484 alleles) in the Genome Aggregation Database but is considered a low confidence variant in this database. The nucleotide at this position is not well conserved and computational programs (MutationTaster, Poly(A) Signal Miner) do not predict this variant to have an effect on the protein. Taken together, this variant is considered likely benign. REFERENCES Link to ClinVar database for c.*45delG: https://www.ncbi.nlm.nih.gov/clinvar/variation/309444/

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