ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.406+75A>C

gnomAD frequency: 0.00923  dbSNP: rs141053889
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
GeneDx RCV001733479 SCV001983907 likely benign not provided 2021-04-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001733479 SCV005260869 likely benign not provided criteria provided, single submitter not provided

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