ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.939C>T (p.Arg313=)

dbSNP: rs2037954101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002262517 SCV002545795 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing GNAO1: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003095966 SCV003509319 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-07-15 criteria provided, single submitter clinical testing

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