ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.1132-5T>G

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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 RCV003666119 SCV004378225 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047718 SCV005676777 uncertain significance Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome 2024-03-25 criteria provided, single submitter clinical testing

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