ClinVar Miner

Submissions for variant NM_006576.4(AVIL):c.1964dup (p.Phe656fs)

gnomAD frequency: 0.00004  dbSNP: rs753128516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000851545 SCV002581661 uncertain significance Nephrotic syndrome, type 21 2021-08-25 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV000845158 SCV000987094 pathogenic Steroid-resistant nephrotic syndrome 2017-10-23 no assertion criteria provided literature only
OMIM RCV000851545 SCV000994617 pathogenic Nephrotic syndrome, type 21 2019-09-25 no assertion criteria provided literature only

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