NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000990348.4
Allele description [Variation Report for NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)]
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
Condition(s)
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001141293 | Mendelics | flagged submission Reason: Claim with insufficient supporting evidence Notes: None (Mendelics Assertion Criteria 2017) | Likely pathogenic (May 28, 2019) | unknown | clinical testing |
Last Updated: Sep 29, 2024