ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)

gnomAD frequency: 0.00001  dbSNP: rs758199486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764361 SCV001999861 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001764361 SCV002396124 likely benign not provided 2024-06-03 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000449584 SCV000537811 uncertain significance Autosomal dominant Alport syndrome no assertion criteria provided clinical testing

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