ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1545-5T>G

gnomAD frequency: 0.00234  dbSNP: rs77944876
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Total submissions: 11
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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 RCV000036447 SCV000060102 benign not specified 2011-11-03 criteria provided, single submitter clinical testing 1545-5T>G in intron 13 of SLC26A4: This variant is not expected to have clinical significance because it has been identified dbSNP in 4.3% (20/468 chromosomes) of a broad population (dbSNP rs77944876).
Eurofins Ntd Llc (ga) RCV000036447 SCV000340576 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000884663 SCV000605144 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000884663 SCV000730596 benign not provided 2018-09-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23280318, 27884173, 16570074, 21704276, 28389359)
Invitae RCV000884663 SCV001028058 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000884663 SCV001145684 benign not provided 2018-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496561 SCV002806697 benign Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2022-05-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884663 SCV003917545 benign not provided 2023-07-01 criteria provided, single submitter clinical testing SLC26A4: BP4, BS1, BS2
Natera, Inc. RCV001277149 SCV001463977 benign Pendred syndrome 2020-01-08 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000036447 SCV001921346 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036447 SCV001958428 benign not specified no assertion criteria provided clinical testing

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