ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1149+3A>G (rs111033314)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036424 SCV000060079 pathogenic Rare genetic deafness 2008-11-11 no assertion criteria provided clinical testing
GeneDx RCV001574741 SCV001801611 pathogenic not provided 2019-01-03 no assertion criteria provided clinical testing Non-canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; functional studies confirm variant destroys the splice donor site of intron 9 and causes skipping of exon 9 (Park et al., 2005); This variant is associated with the following publications: (PMID: 31387071, 31033086, 15679828, 28964290, 24007330, 25488846, 25525159, 23469187)

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