ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) (rs765655100)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669241 SCV000793973 uncertain significance Alport syndrome, autosomal recessive 2017-09-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991616 SCV001143225 uncertain significance not provided 2019-05-10 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000449534 SCV000537790 likely pathogenic Alport syndrome 3, autosomal dominant no assertion criteria provided clinical testing

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