ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.468+139C>T

gnomAD frequency: 0.10086  dbSNP: rs12612699
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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 RCV001527194 SCV001738140 benign Autosomal recessive Alport syndrome 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001539639 SCV001757435 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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