ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.31C>T (p.Leu11=)

gnomAD frequency: 0.00021  dbSNP: rs540291444
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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) RCV000595516 SCV000702734 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000595516 SCV001644248 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV003227495 SCV002076544 likely benign Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 2020-11-03 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543330 SCV004775557 likely benign MPV17-related disorder 2020-02-18 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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