NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) AND Muscular dystrophy, limb-girdle, autosomal dominant 4
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Apr 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003462280.2
Allele description [Variation Report for NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)]
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)
Condition(s)
-
Pungitius pungitius chromosome 17, fPunPun2.1, whole genome shotgun sequence
Pungitius pungitius chromosome 17, fPunPun2.1, whole genome shotgun sequencegi|2646291769|gnl|ASM:GCF_949316344 R_17|ref|NC_084916.1||gpp|GPC_000020353.1||gnl|NCBI_GENOMES|155320Nucleotide
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004213765 | Baylor Genetics | flagged submission Reason: Other Notes: Flagging candidate with reason of insufficient supporting evidence. This gene has been classified as having a limited gene-disease relationship by a ClinGen Expert Panel. (ACMG Guidelines, 2015) | Pathogenic (Jun 15, 2023) | unknown | clinical testing |
Last Updated: Sep 29, 2024