ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1547C>T (p.Pro516Leu)

gnomAD frequency: 0.00721  dbSNP: rs111589086
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000591895 SCV007317844 benign not specified 2024-06-14 criteria provided, single submitter clinical testing BS1, BS2
CeGaT Center for Human Genetics Tuebingen RCV004715308 SCV007115562 benign not provided 2025-10-01 criteria provided, single submitter clinical testing INF2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV004715308 SCV005294720 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV000861111 SCV001001334 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2026-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000591895 SCV000714022 benign not specified 2017-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000591895 SCV000707659 benign not specified 2017-04-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915734 SCV004731502 benign INF2-related disorder 2019-03-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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