NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs) AND Nemaline myopathy 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002310042.2
Allele description [Variation Report for NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)]
NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)
Condition(s)
-
eggc.vipXxs (0)
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See more...Assertion and evidence details
Last Updated: Dec 24, 2022