ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.650-7C>T

gnomAD frequency: 0.00022  dbSNP: rs368410371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545687 SCV000626031 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000606056 SCV000724911 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003960251 SCV004782790 likely benign ELP1-related disorder 2019-08-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001271217 SCV001452219 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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