NM_016042.4(EXOSC3):c.*611A>G AND Pontocerebellar hypoplasia type 1B
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001165913.4
Allele description [Variation Report for NM_016042.4(EXOSC3):c.*611A>G]
NM_016042.4(EXOSC3):c.*611A>G
Condition(s)
-
Ear malformation
Ear malformationMedGen
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023