ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly)

gnomAD frequency: 0.00001  dbSNP: rs1215353050
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706920 SCV001934505 likely pathogenic Noonan syndrome 2 2020-09-08 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_006767.3:c.1084C>T.

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