NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) AND Achondrogenesis, type IB
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409864.4
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)]
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024