ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.3866+1G>A

gnomAD frequency: 0.00001  dbSNP: rs374742590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000373141 SCV000333683 pathogenic not provided 2015-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000373141 SCV001774124 likely pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32747562, 30953472, 27375115, 27573290, 24949729, 17546645, 25525159, 26242193, 26186295)
Molecular Diagnosis Center for Deafness RCV002224964 SCV001984894 pathogenic Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing

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