ClinVar Miner

Submissions for variant NM_001008215.3(COA5):c.*3C>G

gnomAD frequency: 0.00065  dbSNP: rs372867268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000676930 SCV000332705 uncertain significance not provided 2015-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000676930 SCV001946052 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676930 SCV000802747 likely benign not provided 2017-07-31 no assertion criteria provided clinical testing

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