ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) (rs187447337)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490411 SCV000267508 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000666650 SCV000790979 uncertain significance Pendred syndrome 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV000879288 SCV001022309 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375089 SCV001571906 likely benign Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting, BP5_Supporting, BP7_Supporting
Nilou-Genome Lab RCV000666650 SCV001652721 likely benign Pendred syndrome 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000666650 SCV001455794 likely benign Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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