ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.61G>A (p.Val21Met)

gnomAD frequency: 0.00001  dbSNP: rs752484962
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Total submissions: 3
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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 RCV002252347 SCV002524001 likely benign See cases 2021-09-04 criteria provided, single submitter clinical testing ACMG classification criteria: BS2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002570624 SCV002967353 likely benign RASopathy 2024-09-03 criteria provided, single submitter clinical testing
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001257447 SCV001434005 likely pathogenic LEOPARD syndrome 2; Noonan syndrome 5 2020-07-07 no assertion criteria provided clinical testing

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