ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1369-7A>C

gnomAD frequency: 0.00016  dbSNP: rs377050640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652568 SCV000774438 likely benign Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334346 SCV001527163 uncertain significance Charcot-Marie-Tooth disease axonal type 2U 2018-04-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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