ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser)

gnomAD frequency: 0.00150  dbSNP: rs143540449
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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 RCV001085638 SCV000652109 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000839053 SCV000980935 benign not provided 2018-04-25 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.
CeGaT Center for Human Genetics Tuebingen RCV000839053 SCV004135295 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing INF2: BP4, BS1

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