ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) (rs4820889)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755401 SCV000605341 benign not provided 2017-05-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353236 SCV000437898 likely benign Transcobalamin II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000353236 SCV000632393 benign Transcobalamin II deficiency 2017-07-31 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000506035 SCV000803581 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >10% in African population in Exome Aggregation Consortium.

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