ClinVar Miner

Submissions for variant NM_014263.4(YME1L1):c.39A>G (p.Thr13=)

gnomAD frequency: 0.07544  dbSNP: rs11538750
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639402 SCV001851480 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001639402 SCV002471256 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243341 SCV002514084 benign Optic atrophy 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639402 SCV005316341 benign not provided criteria provided, single submitter not provided

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