NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) AND Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000210625.7
Allele description [Variation Report for NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)]
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)
Condition(s)
-
MAG: Candidatus Anstonellales archaeon isolate JZ-2_201705_bins_270, whole genom...
MAG: Candidatus Anstonellales archaeon isolate JZ-2_201705_bins_270, whole genome shotgun sequencing projectgi|2724473604|gb|JAWCMF000000000.1| F010000000Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024