ClinVar Miner

Submissions for variant NM_014263.4(YME1L1):c.541-16T>C

gnomAD frequency: 0.00418  dbSNP: rs2275751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001688178 SCV001907270 benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001688178 SCV002489518 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243418 SCV002514083 benign Optic atrophy 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001688178 SCV005316328 benign not provided criteria provided, single submitter not provided

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