ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) (rs761210511)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672449 SCV000797555 uncertain significance Pendred syndrome 2018-02-05 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375318 SCV001571940 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
Nilou-Genome Lab RCV001579260 SCV001806727 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000672449 SCV001806728 uncertain significance Pendred syndrome 2021-07-22 criteria provided, single submitter clinical testing

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