ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3460+4_3460+11dup

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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 RCV004067377 SCV002756180 uncertain significance not specified 2022-05-11 criteria provided, single submitter clinical testing The c.3460+4_3460+11dupAGTATCTG intronic variant, results from a duplication of 16 nucleotides at nucleotide position 3460 after intron 31 of the IKBKAP gene. This nucleotide region is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003730242 SCV004526442 likely benign not provided 2023-06-29 criteria provided, single submitter clinical testing

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