ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.988-80T>C

gnomAD frequency: 0.01910  dbSNP: rs56326869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000843402 SCV000985437 likely benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001527206 SCV001738152 benign Autosomal recessive Alport syndrome 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000843402 SCV005259015 likely benign not provided criteria provided, single submitter not provided

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