ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7300+43C>T

gnomAD frequency: 0.04068  dbSNP: rs41277206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836385 SCV000978229 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 RCV001533607 SCV001750321 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836385 SCV005280571 benign not provided criteria provided, single submitter not provided

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