ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)

gnomAD frequency: 0.00003  dbSNP: rs765336013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001352559 SCV001547120 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001352559 SCV001995257 uncertain significance not provided 2019-11-10 criteria provided, single submitter clinical testing In silico analysis, which includes splice 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
Fulgent Genetics, Fulgent Genetics RCV002476620 SCV002782194 uncertain significance Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-11-30 criteria provided, single submitter clinical testing

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