ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) (rs35045430)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV000710318 SCV000840504 benign Pendred syndrome 2018-09-28 reviewed by expert panel curation The filtering allele frequency of the p.Ala1898Ser variant in the SLC26A4 gene is 1.2% (324/24040) of African chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036497 SCV000060152 benign not specified 2011-11-14 criteria provided, single submitter clinical testing Ala189Ser in exon 5 of SLC26A4: This variant is not expected to have clinical si gnificance because it has been identified in 0.38% (25/6628) of chromosomes from a broad population (dbSNP rs35045430).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036497 SCV000340847 benign not specified 2016-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000901389 SCV000730012 benign not provided 2019-04-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25262649, 17309986, 27771369, 30245029, 30068397)
Invitae RCV000901389 SCV001045757 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000710318 SCV001459860 benign Pendred syndrome 2020-01-02 no assertion criteria provided clinical testing

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