ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.-31G>C

gnomAD frequency: 0.00006  dbSNP: rs375962780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831513 SCV000973265 likely benign not provided 2018-06-18 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.
Natera, Inc. RCV001271223 SCV001452230 uncertain significance Familial dysautonomia 2020-06-08 no assertion criteria provided clinical testing

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