ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.672A>G (p.Gly224=)

gnomAD frequency: 0.00006  dbSNP: rs762112922
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000826979 SCV000968585 benign not provided 2018-05-29 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 RCV000826979 SCV002443680 benign not provided 2024-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271053 SCV002553404 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749474 SCV005361237 likely benign COL4A6-related disorder 2024-07-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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