ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.920G>A (p.Arg307His)

gnomAD frequency: 0.16486  dbSNP: rs6070697
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001725021 SCV001950796 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25529050, 24777453, 23157319, 26540125)
Fulgent Genetics, Fulgent Genetics RCV002496043 SCV002803172 likely benign Macrothrombocytopenia, isolated, 1, autosomal dominant 2021-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001725021 SCV003214155 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725021 SCV005308141 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729969 SCV001978621 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729969 SCV001979202 benign not specified no assertion criteria provided clinical testing

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