ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr)

gnomAD frequency: 0.00014  dbSNP: rs201220208
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory, Columbia University RCV000782219 SCV000920706 uncertain significance not provided 2018-09-16 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000782219 SCV001035758 benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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