NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) AND NPHP3-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004530385.2
Allele description [Variation Report for NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=)]
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=)
Condition(s)
- Name:
- NPHP3-related disorder
- Synonyms:
- NPHP3-related disorders; NPHP3-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Jan 4, 2025