ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp)

dbSNP: rs104886082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585404 SCV000693357 likely pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795935 SCV005418915 likely pathogenic X-linked Alport syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PS4_Supporting
Fulgent Genetics, Fulgent Genetics RCV004795935 SCV005679790 likely pathogenic X-linked Alport syndrome 2024-05-03 criteria provided, single submitter clinical testing

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