NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=) AND Sulfate transporter-related osteochondrodysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000292288.5
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=)]
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=)
Condition(s)
- Name:
- Sulfate transporter-related osteochondrodysplasia
- Synonyms:
- DTDST-related dysplasias
- Identifiers:
- MedGen: CN120497
Assertion and evidence details
Last Updated: Sep 29, 2024