ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10388-27T>C

gnomAD frequency: 0.59567  dbSNP: rs7518466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001532787 SCV001748502 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001712965 SCV001941389 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712965 SCV005287632 benign not provided criteria provided, single submitter not provided

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