ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.4006-8C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002375689 SCV002625362 uncertain significance Inborn genetic diseases 2014-11-06 criteria provided, single submitter clinical testing The c.4006-8C>T intronic variant results from a C to T substitution 8 nucleotides upstream from coding exon 36 in the BRWD3 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples with coverage at this position. This nucleotide position is not conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this acceptor/donor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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