ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr)

gnomAD frequency: 0.00954  dbSNP: rs137973249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124862 SCV000168301 benign not specified 2014-04-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514249 SCV000610116 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV000514249 SCV001109484 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117995 SCV001276241 benign Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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