ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.1939+20del

dbSNP: rs757282598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001983699 SCV002278298 uncertain significance not provided 2021-12-07 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with RBBP8-related conditions. This variant is present in population databases (rs757282598, gnomAD 0.01%). This sequence change falls in intron 12 of the RBBP8 gene. It does not directly change the encoded amino acid sequence of the RBBP8 protein.
Fulgent Genetics, Fulgent Genetics RCV002507761 SCV002815635 uncertain significance Jawad syndrome; Seckel syndrome 2 2022-01-25 criteria provided, single submitter clinical testing

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