ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.614-5C>G

gnomAD frequency: 0.00322  dbSNP: rs114414421
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968566 SCV001116028 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819083 SCV002066479 likely benign not specified 2020-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000968566 SCV005262913 likely benign not provided criteria provided, single submitter not provided

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