NM_152564.5(VPS13B):c.7353C>T (p.Val2451=) AND Cohen syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001461978.8
Allele description [Variation Report for NM_152564.5(VPS13B):c.7353C>T (p.Val2451=)]
NM_152564.5(VPS13B):c.7353C>T (p.Val2451=)
Condition(s)
-
Ecym_5351 [Eremothecium cymbalariae DBVPG#7215]
Ecym_5351 [Eremothecium cymbalariae DBVPG#7215]Gene ID:11470786Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024