ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.1638C>T (p.Ile546=)

gnomAD frequency: 0.00017  dbSNP: rs201066183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439056 SCV000524629 likely benign not specified 2016-12-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084680 SCV000758302 likely benign Eichsfeld type congenital muscular dystrophy 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000636860 SCV001147209 uncertain significance not provided 2016-04-01 criteria provided, single submitter clinical testing

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