ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.958+11T>G

gnomAD frequency: 0.00001  dbSNP: rs201309418
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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 RCV002537808 SCV002934204 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278728 SCV001465760 uncertain significance Familial dysautonomia 2020-08-21 no assertion criteria provided clinical testing

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