ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.462-21T>C

gnomAD frequency: 0.23408  dbSNP: rs62130714
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543224 SCV001761751 benign Charcot-Marie-Tooth disease, axonal, type 2EE 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543225 SCV001761752 benign Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001619954 SCV001842910 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001619954 SCV003482413 benign not provided 2023-10-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619954 SCV005243337 benign not provided criteria provided, single submitter not provided

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