ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.1710C>T (p.Pro570=)

gnomAD frequency: 0.00020  dbSNP: rs200136098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890498 SCV001034244 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890498 SCV004811468 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing LONP1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004541822 SCV004776748 likely benign LONP1-related disorder 2019-08-14 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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