ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser)

gnomAD frequency: 0.81410  dbSNP: rs4838865
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513020 SCV001720550 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001513020 SCV001846923 benign not provided 2018-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000606951 SCV002514620 benign Microcephaly and chorioretinopathy 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513020 SCV005275904 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606951 SCV000734134 benign Microcephaly and chorioretinopathy 1 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700246 SCV001921441 benign not specified no assertion criteria provided clinical testing

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