ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.909T>C (p.Asp303=)

gnomAD frequency: 0.00122  dbSNP: rs144586397
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Total submissions: 5
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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 RCV000605668 SCV000711807 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asp303Asp in exon 16 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 2.64% (245/9283) o f Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs144586397).
Invitae RCV000878152 SCV001021012 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000878152 SCV001143263 benign not provided 2018-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000878152 SCV001915998 benign not provided 2019-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834920 SCV002081375 likely benign X-linked Alport syndrome 2019-12-03 no assertion criteria provided clinical testing

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