ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1706del (p.Leu569fs) (rs1131690842)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492517 SCV000580763 pathogenic Hereditary cancer-predisposing syndrome 2011-10-27 criteria provided, single submitter clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000722018 SCV000853192 pathogenic Retinoblastoma 2016-01-15 criteria provided, single submitter clinical testing The patient’s germline DNA is heterozygous (see comments below) for a frame shift deletion of a single nucleotide, T, at coding position 1706. This is predicted to change a Leucine to a Tyrosine at codon 569, which results in a shift in the reading frame and a premature stop codon 42 amino acids downstream.

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