ClinVar Miner

Submissions for variant NM_006576.4(AVIL):c.595C>T (p.Arg199Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508905 SCV002818271 likely pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004698871 SCV005200937 likely pathogenic Nephrotic syndrome, type 21 2024-04-01 criteria provided, single submitter clinical testing PVS1, PM2

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