ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.558G>A (p.Ala186=)

gnomAD frequency: 0.00010  dbSNP: rs374363396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394255 SCV000396064 uncertain significance Combined oxidative phosphorylation deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061195 SCV002400245 likely benign not provided 2023-05-22 criteria provided, single submitter clinical testing

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