ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=)

gnomAD frequency: 0.00025  dbSNP: rs148046007
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951459 SCV001097861 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000951459 SCV001771571 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832197 SCV002083662 likely benign X-linked Alport syndrome 2020-12-15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003943032 SCV004756976 likely benign COL4A5-related disorder 2022-06-14 no assertion criteria provided 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).

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