ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.60_86del (p.Val25_Ala33del)

dbSNP: rs769664625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211169 SCV002497089 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing DEAF1: BP3
Invitae RCV002211169 SCV003011004 uncertain significance not provided 2021-06-20 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with DEAF1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.60_86del, results in the deletion of 9 amino acid(s) of the DEAF1 protein (p.Val25_Ala33del), but otherwise preserves the integrity of the reading frame.
PreventionGenetics, part of Exact Sciences RCV004533973 SCV004749890 likely benign DEAF1-related disorder 2024-02-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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