ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)

dbSNP: rs780712297
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Sciences Centre, British Columbia Cancer Agency RCV000585769 SCV000693658 likely pathogenic Adenoid cystic carcinoma 2018-02-01 no assertion criteria provided research Stop codon mutation is likely loss of function. This gene is mutated recurrently in 3/5 affected cases and so likely has a pathogenic role.

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