ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4315+20T>C

gnomAD frequency: 0.96249  dbSNP: rs6537642
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001515609 SCV001723713 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001515609 SCV001907325 benign not provided 2018-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000612328 SCV002514586 benign Microcephaly and chorioretinopathy 1 2021-12-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000612328 SCV000734132 benign Microcephaly and chorioretinopathy 1 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701113 SCV001924862 benign not specified no assertion criteria provided clinical testing

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