ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2147-12A>G

gnomAD frequency: 0.00061  dbSNP: rs749368555
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075876 SCV002385710 benign not provided 2024-03-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494177 SCV002800601 likely benign X-linked Alport syndrome 2022-02-03 criteria provided, single submitter clinical testing

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