ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.875del (p.Gly292fs)

dbSNP: rs281874768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000021213 SCV000484909 pathogenic X-linked Alport syndrome no assertion criteria provided clinical testing

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