ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1545-5T>G (rs77944876)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036447 SCV000340576 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000036447 SCV000605144 benign not specified 2019-03-18 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 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000884663 SCV001145684 benign not provided 2018-09-17 criteria provided, single submitter clinical testing
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
Human Genetics - Radboudumc,Radboudumc RCV000036447 SCV001958428 benign not specified no assertion criteria provided clinical testing

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