ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.409G>A (p.Val137Met)

gnomAD frequency: 0.00001  dbSNP: rs200713451
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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 RCV000690750 SCV000818452 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000690750 SCV002786708 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629298 SCV005125005 likely benign Inborn genetic diseases 2024-05-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735727 SCV000863880 uncertain significance Focal segmental glomerulosclerosis 5 2018-05-17 no assertion criteria provided clinical testing

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