ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.-101-4A>G

gnomAD frequency: 0.00562  dbSNP: rs147186690
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000843315 SCV000985349 benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138610 SCV001298677 likely benign Alport syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Centogene AG - the Rare Disease Company RCV001838244 SCV002098122 uncertain significance Autosomal recessive Alport syndrome 2022-02-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000843315 SCV004183875 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing COL4A4: BS2

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