ClinVar Miner

Submissions for variant NM_006576.4(AVIL):c.404G>A (p.Arg135Gln)

gnomAD frequency: 0.00034  dbSNP: rs138047529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000851544 SCV004238488 likely pathogenic Nephrotic syndrome, type 21 2023-07-10 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV000845157 SCV000987093 pathogenic Steroid-resistant nephrotic syndrome 2017-10-23 no assertion criteria provided literature only
OMIM RCV000851544 SCV000994616 pathogenic Nephrotic syndrome, type 21 2019-09-25 no assertion criteria provided literature only

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