ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)

gnomAD frequency: 0.00035  dbSNP: rs781468690
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653741 SCV000775631 uncertain significance Kostmann syndrome 2022-10-25 criteria provided, single submitter clinical testing This variant, c.117_122dup, results in the insertion of 2 amino acid(s) of the HAX1 protein (p.Glu40_Gly41dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781468690, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 543082). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV000658524 SCV000780297 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000653741 SCV003810658 uncertain significance Kostmann syndrome 2022-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000658524 SCV004167831 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame insertion of 2 amino acids in a non-repeat region; In-silico analysis is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Breakthrough Genomics, Breakthrough Genomics RCV000658524 SCV005186919 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000653741 SCV001455152 likely benign Kostmann syndrome 2020-06-17 no assertion criteria provided clinical testing

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