ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.1014+27G>C

gnomAD frequency: 0.56368  dbSNP: rs339540
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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 RCV001661425 SCV001876742 benign Autosomal dominant auditory neuropathy 1 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001707915 SCV001935328 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707915 SCV005230425 benign not provided criteria provided, single submitter not provided

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