ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.56_73del (p.Gly19_Gly24del) (rs774616642)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188006 SCV000241609 uncertain significance not specified 2015-01-07 criteria provided, single submitter clinical testing p.Gly19_Gly24del (G19_G24del): c.56_73del18. The c.56_73del18 variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.56_73del18 variant results in an in-frame deletion of 6 amino acid residues, denoted p.G19_G24del. However, this deletion occurs at a position that is not conserved across species. c.56_73del18 may be a benign variant not associated with a specified phenotype; however, the possibility that it is a disease-associated mutation cannot be excluded. The variant is found in EPILEPSY panel(s).
Ambry Genetics RCV000720594 SCV000851473 likely benign Seizures 2017-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)

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