ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1461-13A>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 RCV002614482 SCV002965217 uncertain significance not provided 2021-12-17 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ELP1 gene. It does not directly change the encoded amino acid sequence of the ELP1 protein. This variant is present in population databases (rs767718313, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005042922 SCV005674582 uncertain significance Medulloblastoma; Familial dysautonomia 2024-04-03 criteria provided, single submitter clinical testing

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