ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) (rs772708743)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000681901 SCV001208018 likely pathogenic not provided 2020-10-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000681901 SCV001248945 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000681901 SCV000809383 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786971 SCV000925876 pathogenic Alport syndrome 3, autosomal dominant 2018-10-29 no assertion criteria provided clinical testing
Natera, Inc. RCV001272226 SCV001454007 uncertain significance Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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