ClinVar Miner

Submissions for variant NC_000001.11:g.179576028G>A

gnomAD frequency: 0.00026  dbSNP: rs553068590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002226076 SCV002504271 likely benign not provided 2019-07-11 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002226076 SCV003523931 uncertain significance not provided 2020-08-09 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the NPHS2 gene. It does not change the encoded amino acid sequence of the NPHS2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with steroid-resistant nephrotic syndrome (PMID: 26420286). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this non-coding change is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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