ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.1265G>T (p.Trp422Leu)

gnomAD frequency: 0.00001  dbSNP: rs886061420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296430 SCV000463418 uncertain significance 3-M syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422347 SCV004161651 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing

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