ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.771-15C>G

gnomAD frequency: 0.00008  dbSNP: rs201328384
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605980 SCV000725306 likely benign not specified 2017-12-15 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173665 SCV001336767 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002232735 SCV002509723 likely benign Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2023-11-21 criteria provided, single submitter clinical testing

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