ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1708-18T>A (rs55701254)

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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 RCV001171532 SCV001334317 benign Pendred syndrome 2020-03-18 reviewed by expert panel curation The filtering allele frequency (the lower threshold of the 95% CI of 1456/25104) of the c.1708-18T>A variant in the SLC26A4 gene is 5.55% for European (Finnish) chromosomes by gnomAD v2.1.1, 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). This silent variant in SLC26A4 is not predicted by the computational prediction analysis using MaxEntScan to impact splicing (BP7, BP4). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BA1, BP7, BP4.
PreventionGenetics,PreventionGenetics RCV000244473 SCV000304280 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244473 SCV000861027 benign not specified 2018-05-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283057 SCV001159554 benign none provided 2020-04-30 criteria provided, single submitter clinical testing
Invitae RCV001512980 SCV001720497 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001171532 SCV001459931 benign Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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