ClinVar Miner

Submissions for variant NC_000021.8:g.(?_36182049)_(36231885_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949387 SCV002240311 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the RUNX1 gene that includes exon(s) 6 has been determined to be clinically significant (PMID: 31309983, 19946261, 10508512, 21725049). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. This variant has not been reported in the literature in individuals with RUNX1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 6-7 of the RUNX1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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