ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=)

gnomAD frequency: 0.00028  dbSNP: rs146884759
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945377 SCV001091382 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195572 SCV001365965 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly1451Gly in exon 49 of COL4A5: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.06% (6/10123) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs146884759).
GeneDx RCV000945377 SCV001816737 likely benign not provided 2020-03-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832186 SCV002083677 likely benign X-linked Alport syndrome 2019-12-31 no assertion criteria provided clinical testing

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