ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.61C>G (p.Leu21Val)

gnomAD frequency: 0.00013  dbSNP: rs200504529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000352417 SCV000336665 uncertain significance not provided 2015-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000352417 SCV001018449 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271668 SCV001452971 likely benign Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2020-01-09 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543039 SCV004786968 likely benign MPV17-related disorder 2023-03-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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