ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.280-13C>T

gnomAD frequency: 0.00002  dbSNP: rs375281035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173671 SCV001336773 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002240917 SCV002509702 likely benign Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2023-11-08 criteria provided, single submitter clinical testing

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