ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)

dbSNP: rs2037752645
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV001199405 SCV001169714 pathogenic Bardet-Biedl syndrome 2020-01-05 criteria provided, single submitter clinical testing absent from gnomAD and 1000genomes, variation predicted and confirmed to affect splicing by removing the exon 8 from the mRNA

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