ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.606G>T (p.Gly202=) (rs768309637)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630700 SCV000751665 likely benign Familial dysautonomia 2017-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000827122 SCV000968744 likely benign not provided 2018-05-11 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.

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