ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)

gnomAD frequency: 0.00034  dbSNP: rs104886164
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733962 SCV000862070 likely benign not specified 2018-06-28 criteria provided, single submitter clinical testing
Invitae RCV000951685 SCV001098108 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000714314 SCV001141992 benign X-linked Alport syndrome 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000714314 SCV001440205 uncertain significance X-linked Alport syndrome 2019-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953260 SCV004771456 likely benign COL4A5-related condition 2019-08-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000714314 SCV001458772 benign X-linked Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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