ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1736-6C>T

gnomAD frequency: 0.00015  dbSNP: rs371991103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551719 SCV000652078 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001704681 SCV000715436 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23515051)
Ambry Genetics RCV002404532 SCV002713287 likely benign Inborn genetic diseases 2020-02-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV000551719 SCV002797811 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-08-02 criteria provided, single submitter clinical testing

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