ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)

gnomAD frequency: 0.00001  dbSNP: rs397516430
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036502 SCV000060157 pathogenic Rare genetic deafness 2010-05-06 criteria provided, single submitter clinical testing
Counsyl RCV000169606 SCV000221127 likely pathogenic Pendred syndrome 2015-02-11 criteria provided, single submitter literature only
Eurofins Ntd Llc (ga) RCV000726682 SCV000345975 pathogenic not provided 2016-09-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000169606 SCV002027639 pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing

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