ClinVar Miner

Submissions for variant NC_000002.11:g.(?_217303181)_(217308995_?)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 RCV004582509 SCV005067870 likely pathogenic Schimke immuno-osseous dysplasia 2023-01-30 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. This variant results in the deletion of part of exon 10 (c.1683_1711-2746del) of the SMARCAL1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550).

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