ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp)

gnomAD frequency: 0.07404  dbSNP: rs35381394
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990463 SCV001141456 benign Microcephaly and chorioretinopathy 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513240 SCV001720827 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001513240 SCV001758636 benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513240 SCV005275882 benign not provided criteria provided, single submitter not provided

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