NM_002880.4(RAF1):c.917C>T (p.Ser306Leu) AND Noonan syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249756.4
Allele description [Variation Report for NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)]
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)
Condition(s)
-
Progressive myoclonic epilepsy type 6
Progressive myoclonic epilepsy type 6MedGen
-
C5190805[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024