ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe)

dbSNP: rs104886287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001030011 SCV002793383 likely pathogenic X-linked Alport syndrome 2021-12-02 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001030011 SCV001192814 likely pathogenic X-linked Alport syndrome 2019-11-15 no assertion criteria provided clinical testing

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