ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)

dbSNP: rs55849096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756029 SCV001986681 uncertain significance not provided 2021-11-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001756029 SCV002472750 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625595 SCV000746094 uncertain significance Autosomal dominant Alport syndrome 2017-09-18 no assertion criteria provided clinical testing

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