ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.2452+49C>G

dbSNP: rs41306051
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004712137 SCV005272208 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000146315 SCV000193581 likely benign not specified no assertion criteria provided clinical testing

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