ClinVar Miner

Submissions for variant NM_022772.4(EPS8L2):c.100+72T>C

gnomAD frequency: 0.63378  dbSNP: rs11605783
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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 RCV001544327 SCV001763346 benign Hearing loss, autosomal recessive 106 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001720313 SCV001947679 benign not provided 2021-05-11 criteria provided, single submitter clinical testing

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