ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.702+29G>A

gnomAD frequency: 0.11700  dbSNP: rs3788859
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000146995 SCV000309112 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636685 SCV001851879 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146995 SCV000194332 likely benign not specified no assertion criteria provided clinical testing

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