ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1189+20G>A

dbSNP: rs999307275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194427 SCV001363975 likely benign not specified 2024-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003565475 SCV004328022 likely benign not provided 2023-10-08 criteria provided, single submitter clinical testing

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