ClinVar Miner

Submissions for variant NC_000011.9:g.(?_64522783)_(66283694_?)del

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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 RCV002014493 SCV002229918 pathogenic Bardet-Biedl syndrome 2022-07-01 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement involving exon(s) 1-7 of the BBS1 gene. It does not change the copy number of any exons. Although the exact nature of the event is unknown, it is likely that this is a large inversion event including exon(s) 1-7, that would either disrupt the transcription or result in a truncated protein product. Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BBS1-related conditions.
Labcorp Genetics (formerly Invitae), Labcorp RCV002004587 SCV002231000 pathogenic Glycogen storage disease, type V 2022-07-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PYGM-related conditions. This sequence change is a complex rearrangement involving exon(s) 1-7 of the PYGM gene. It does not change the copy number of any exons. Although the exact nature of the event is unknown, it is likely that this is a large inversion event including exon(s) 1-7, that would either disrupt the transcription or result in a truncated protein product. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513).

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