ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) (rs148677674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001454598 SCV001658330 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000499922 SCV000590942 likely pathogenic Noonan syndrome 10 2017-04-26 no assertion criteria provided clinical testing This mutation has been reported in 1000 genomes and ExAC databases with allele frequency 0.04% and 0.022%. However, this variant is reported as damaging by SIFT, LRT and MutationTaster.

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