ClinVar Miner

Submissions for variant NM_014263.4(YME1L1):c.2008-7G>A

gnomAD frequency: 0.23338  dbSNP: rs11015538
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001690562 SCV001908124 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001690562 SCV002438964 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243415 SCV002514081 benign Optic atrophy 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001690562 SCV005316311 benign not provided criteria provided, single submitter not provided

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