ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1610C>T (p.Thr537Met) (rs368913905)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671934 SCV000796975 uncertain significance Finnish congenital nephrotic syndrome 2018-01-05 criteria provided, single submitter clinical testing
Invitae RCV000910963 SCV001056016 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001127722 SCV001287065 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.
Blueprint Genetics RCV000157398 SCV000207137 uncertain significance Proteinuria 2014-09-15 no assertion criteria provided clinical testing

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