ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) (rs142723249)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036479 SCV000060134 likely benign not specified 2012-05-04 criteria provided, single submitter clinical testing Gln730His in exon 19 of SLC26A4: This variant is not expected to have clinical s ignificance because it is has been identified in 0.3% (11/3738) of African Ameri can chromosomes from a broad population by the NHLBI Exome sequencing project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs142723249).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036479 SCV000334674 likely benign not specified 2015-08-25 criteria provided, single submitter clinical testing
Counsyl RCV000671237 SCV000796192 uncertain significance Pendred syndrome 2017-12-07 criteria provided, single submitter clinical testing
Invitae RCV000893561 SCV001037505 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Mendelics RCV000671237 SCV001137437 benign Pendred syndrome 2019-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671237 SCV001463984 likely benign Pendred syndrome 2020-01-11 no assertion criteria provided clinical testing
GeneDx RCV000893561 SCV001793197 likely benign not provided 2020-06-29 no assertion criteria provided clinical testing Observed heterozygous in unrelated patients with hearing loss in published literature (Landa et al., 2013; Chen et al., 2011); This variant is associated with the following publications: (PMID: 30245029, 21704276, 23965030)

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