ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1488+16G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002814311 SCV003029570 likely benign not provided 2023-08-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333225 SCV004041144 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2023-02-07 criteria provided, single submitter clinical testing

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