ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2310C>T (p.Tyr770=)

gnomAD frequency: 0.00003  dbSNP: rs758454108
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995263 SCV001149351 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427782 SCV001630467 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445149 SCV002735588 benign Inborn genetic diseases 2020-03-25 criteria provided, single submitter clinical testing This alteration is classified as 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.

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