ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.1095G>C (p.Gly365=) (rs2272945)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244362 SCV000304526 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000244362 SCV000711817 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gly365Gly in exon 19 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 40.08% (402/1003) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs2272945).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755962 SCV000883650 benign not provided 2017-07-11 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021244 SCV000041910 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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