NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg) AND Multiple mitochondrial dysfunctions syndrome 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001332398.1
Allele description [Variation Report for NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)]
NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)
Condition(s)
-
Sclerosis of 2nd finger phalanx
Sclerosis of 2nd finger phalanxMedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jul 8, 2022