ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) (rs537706381)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941552 SCV001087442 benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151741 SCV001312906 uncertain significance Stüve-Wiedemann 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001151741 SCV001452984 likely benign Stüve-Wiedemann syndrome 2020-04-20 no assertion criteria provided clinical testing

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