ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=)

dbSNP: rs868932053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600474 SCV000726582 likely benign not specified 2018-01-16 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 RCV003117408 SCV003795963 likely benign Developmental and epileptic encephalopathy, 8 2022-06-24 criteria provided, single submitter clinical testing

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