ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.4812+8C>T

gnomAD frequency: 0.05127  dbSNP: rs73251797
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249514 SCV000308149 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000249514 SCV000732313 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058075 SCV002481823 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270145 SCV002555010 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002058075 SCV005276416 benign not provided criteria provided, single submitter not provided

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