ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2021-54T>C

gnomAD frequency: 0.06366  dbSNP: rs55643512
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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 RCV001527250 SCV001738208 likely benign Autosomal recessive Alport syndrome 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001615224 SCV001834181 benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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