ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.2519-31A>G

gnomAD frequency: 0.71868  dbSNP: rs4483657
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001714233 SCV001943283 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788827 SCV002029349 benign Autosomal recessive nonsyndromic hearing loss 84B 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001714233 SCV005231891 benign not provided criteria provided, single submitter not provided

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