ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.668C>T (p.Thr223Met)

gnomAD frequency: 0.00061  dbSNP: rs144385061
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864971 SCV001005864 likely benign Charcot-Marie-Tooth disease dominant intermediate F 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001675969 SCV001892409 benign not provided 2020-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363225 SCV002665355 likely benign Inborn genetic diseases 2020-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001675969 SCV004149449 benign not provided 2022-07-01 criteria provided, single submitter clinical testing GNB4: BS1, BS2

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