ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.2023G>C (p.Val675Leu)

gnomAD frequency: 0.00940  dbSNP: rs151025018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950480 SCV001096793 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000950480 SCV001811151 likely benign not provided 2019-04-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950480 SCV002822492 benign not provided 2025-02-01 criteria provided, single submitter clinical testing LONP1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000950480 SCV005206609 likely benign not provided criteria provided, single submitter not provided

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