ClinVar Miner

Submissions for variant NM_002070.4(GNAI2):c.302C>T (p.Ala101Val)

gnomAD frequency: 0.00247  dbSNP: rs112497464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998078 SCV001153962 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing GNAI2: PP2, BP4, BS2
Dept of Medical Biology, Uskudar University RCV003482158 SCV004021958 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: BS1, PP2
Breakthrough Genomics, Breakthrough Genomics RCV000998078 SCV005189578 uncertain significance not provided criteria provided, single submitter not provided

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