ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1378C>T (p.Arg460Trp)

gnomAD frequency: 0.00003  dbSNP: rs749319334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001123646 SCV001282499 uncertain significance Congenital nephrotic syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002556671 SCV003454786 likely benign not provided 2023-08-21 criteria provided, single submitter clinical testing

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