ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.741-19G>A

gnomAD frequency: 0.00897  dbSNP: rs79520527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199039 SCV000251340 benign not specified 2014-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000675858 SCV002482243 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492901 SCV002798992 likely benign Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2022-05-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675858 SCV000801581 benign not provided 2017-09-27 no assertion criteria provided clinical testing

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