ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.987+35T>G

gnomAD frequency: 0.10155  dbSNP: rs10933172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842608 SCV000984636 benign not provided 2018-06-13 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.
Genome-Nilou Lab RCV001527205 SCV001738151 benign Autosomal recessive Alport syndrome 2021-06-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594230 SCV005088024 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 22% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 20. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000842608 SCV005243332 benign not provided criteria provided, single submitter not provided

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