ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.528T>G (p.Pro176=)

gnomAD frequency: 0.00296  dbSNP: rs12390371
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727883 SCV000855386 benign not specified 2017-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000840089 SCV000982004 benign not provided 2020-02-11 criteria provided, single submitter clinical testing
Invitae RCV000840089 SCV001098297 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000840089 SCV001143267 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271016 SCV002553415 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing

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