ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)

gnomAD frequency: 0.00001  dbSNP: rs541108316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559273 SCV001781452 uncertain significance Autosomal recessive Alport syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559274 SCV001781453 uncertain significance Autosomal dominant Alport syndrome 2021-07-14 criteria provided, single submitter clinical testing

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