NM_014028.4(OSTM1):c.*2344C>G AND Autosomal recessive osteopetrosis 5
- Germline classification:
- Benign (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:
- RCV000316918.5
Allele description [Variation Report for NM_014028.4(OSTM1):c.*2344C>G]
NM_014028.4(OSTM1):c.*2344C>G
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023