ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.2055T>C (p.Tyr685=)

gnomAD frequency: 0.00122  dbSNP: rs202094225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724903 SCV000332305 uncertain significance not provided 2015-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000724903 SCV000522576 likely benign not provided 2020-04-08 criteria provided, single submitter clinical testing
Invitae RCV001085450 SCV000641219 likely benign MOGS-congenital disorder of glycosylation 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724903 SCV004155073 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MOGS: BP4, BP7

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