ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) (rs34460295)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254089 SCV000314832 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992994 SCV001145653 benign not provided 2019-03-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137141 SCV001297049 benign Corneal dystrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV000992994 SCV001727649 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275548 SCV001460788 benign Corneal dystrophy-perceptive deafness syndrome 2020-09-16 no assertion criteria provided clinical testing

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