ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.2764-2dup (rs148961885)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000331962 SCV000451030 uncertain significance Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513740 SCV000610482 likely benign not provided 2017-05-10 criteria provided, single submitter clinical testing
Invitae RCV000513740 SCV001037869 benign not provided 2019-11-29 criteria provided, single submitter clinical testing

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