ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)

dbSNP: rs751308379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244164 SCV002512498 likely pathogenic Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 2021-09-09 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate

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