ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)

gnomAD frequency: 0.00013  dbSNP: rs754836509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516753 SCV000612992 uncertain significance not specified 2017-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952213 SCV001098697 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Precision Medicine Center, Zhengzhou University RCV001391164 SCV001593060 uncertain significance X-linked Alport syndrome criteria provided, single submitter research PM1:Located in a mutational hot spot PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product

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