ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2375-66C>T

gnomAD frequency: 0.92995  dbSNP: rs6436671
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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 RCV001527252 SCV001738210 benign Autosomal recessive Alport syndrome 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001692440 SCV001912357 benign not provided 2018-06-22 criteria provided, single submitter clinical testing

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