ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.2768-11A>G (rs1006269)

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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 RCV000245032 SCV000603154 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000245032 SCV000705727 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000245032 SCV000711419 benign not specified 2017-09-25 criteria provided, single submitter clinical testing c.2768-11A>G in intron 32A of COL4A5: This variant is not expected to have clini cal significance because it has been identified in 32.6% (8823/27099) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti; dbSNP rs1006269).
PreventionGenetics RCV000245032 SCV000304532 benign not specified criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021442 SCV000042108 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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