ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) (rs3729751)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Weber Lab,Hannover Medical School RCV000490985 SCV000346034 likely pathogenic Congenital anomalies of kidney and urinary tract 2016-09-14 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000326373 SCV000457571 likely benign Stüve-Wiedemann syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000891051 SCV001034840 likely benign not provided 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000891051 SCV001786006 uncertain significance not provided 2020-08-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28334964)
Natera, Inc. RCV000326373 SCV001452982 likely benign Stüve-Wiedemann syndrome 2020-01-12 no assertion criteria provided clinical testing

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