ClinVar Miner

Submissions for variant NM_014263.4(YME1L1):c.*45C>T

gnomAD frequency: 0.85438  dbSNP: rs9833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001659270 SCV001881508 benign not provided 2021-05-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243381 SCV002514078 benign Optic atrophy 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001659270 SCV005316310 benign not provided criteria provided, single submitter not provided

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