ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4090A>T (p.Ser1364Cys)

gnomAD frequency: 0.12667  dbSNP: rs5771107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521934 SCV001731372 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001521934 SCV001839555 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243280 SCV002514609 benign Microcephaly and chorioretinopathy 1 2021-12-05 criteria provided, single submitter clinical testing

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