ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2768-11A>G

gnomAD frequency: 0.09324  dbSNP: rs1006269
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245032 SCV000304532 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000021442 SCV000603154 benign X-linked Alport syndrome 2021-01-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000245032 SCV000705727 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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 tute.org/; dbSNP rs1006269).
Invitae RCV001515382 SCV001723440 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000021442 SCV001762630 benign X-linked Alport syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001515382 SCV001890680 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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