ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.2055T>C (p.Leu685=) (rs7884085)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755964 SCV000883652 benign not provided 2017-07-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248069 SCV000339963 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000248069 SCV000711867 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Leu685Leu in exon 27 of COL4A5: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 40.39% (1404/3476) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs7884085).
PreventionGenetics RCV000248069 SCV000304530 benign not specified criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021360 SCV000042026 benign Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Benign.

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