NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) AND not provided
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Dec 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000078518.21
Allele description [Variation Report for NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)]
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000119488 | DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE | flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV000119488 appears to be redundant with SCV000119489. | not provided | not provided | not provided |
Last Updated: Sep 29, 2024