ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2694_2705del (p.Asp898_Glu901del)

dbSNP: rs121913309
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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 RCV002429345 SCV002743430 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-19 criteria provided, single submitter clinical testing The c.2694_2705del12 variant (also known as p.D898_E901del) is located in coding exon 15 of the RET gene. This variant results from an in-frame deletion of 12 nucleotides at positions 2694 to 2705. This results in the deletion of 4 amino acids between codons 898 and 901. This amino acid region is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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