ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3419-4del

dbSNP: rs35803812
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001656143 SCV001864810 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658375 SCV001875545 benign Autosomal recessive Alport syndrome 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658376 SCV001875656 benign Autosomal dominant Alport syndrome 2021-07-30 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV001658375 SCV002503849 benign Autosomal recessive Alport syndrome 2023-03-30 criteria provided, single submitter clinical testing Population allele frequency is 49% (rs535370229, 117,552/237,550 alleles in gnomAD v2.1). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1

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