ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.2349G>A (p.Pro783=) (rs3747408)

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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 RCV000755961 SCV000883648 benign not provided 2017-07-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000253038 SCV000711816 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro783Pro in exon 29 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 39.48% (396/1003) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs3747408).
PreventionGenetics RCV000253038 SCV000304531 benign not specified criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021390 SCV000042056 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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