ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2109C>T (p.Ile703=)

dbSNP: rs369092053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825151 SCV000966420 likely benign not specified 2018-02-27 criteria provided, single submitter clinical testing p.Ile703Ile in exon 27 of COL4A5: This variant is not expected to have clinical significance because it does not alter an amino acid residue, it is not located in the splice consensus sequence, and it is not expected to impact splicing. It has been identified in 1/14980 South Asian chromosomes, including 1 hemizygote, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs369092053). ACMG/AMP Criteria applied: BP4; BP7.
Invitae RCV001417231 SCV001619429 likely benign not provided 2022-11-12 criteria provided, single submitter clinical testing

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