ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.666C>T (p.His222=) (rs377194545)

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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 RCV000756969 SCV000884974 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing The ACVRL1 c.666C>T; p.His222His variant (rs377194545) is reported in the medical literature as a polymorphism (Prigoda 2006). This variant is found in the general population with an overall frequency of 0.02% (47/276262 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 impact splicing. Based on available information, this variant is considered likely benign. REFERENCES Prigoda NL et al. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. J Med Genet. 2006 Sep;43(9):722-8.
Invitae RCV001079089 SCV001002340 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2020-09-08 criteria provided, single submitter clinical testing

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