NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) AND Dilated cardiomyopathy 1DD
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001065342.5
Allele description [Variation Report for NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)]
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
Condition(s)
-
"Ambry Genetics"[submitter] AND "LOC130058587"[gene] (3)
ClinVar
-
PREDICTED: Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant X...
PREDICTED: Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant X1, mRNAgi|2462522008|ref|XM_054367224.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024