ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.1125A>G (p.Glu375=)

gnomAD frequency: 0.00526  dbSNP: rs142057815
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000952201 SCV000727297 benign not provided 2019-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952201 SCV001098684 benign not provided 2024-12-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270850 SCV002553382 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000952201 SCV005276446 benign not provided criteria provided, single submitter not provided

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