ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=)

gnomAD frequency: 0.00120  dbSNP: rs142858644
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000082199 SCV000114148 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082199 SCV000193535 likely benign not specified 2013-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000899683 SCV000524107 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Invitae RCV000899683 SCV001043967 benign not provided 2021-10-14 criteria provided, single submitter clinical testing

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