ClinVar Miner

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

gnomAD frequency: 0.00498  dbSNP: rs148961885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331962 SCV000451030 uncertain significance Autosomal recessive proximal renal tubular acidosis 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 2023-10-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922534 SCV004741650 benign SLC4A4-related disorder 2019-04-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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