ClinVar Miner

Submissions for variant NC_000023.10:g.(?_100655634)_(100656817_?)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 RCV003122105 SCV003790788 pathogenic Fabry disease 2022-04-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with Fabry disease (PMID: 2539398, 18472290). It has also been observed to segregate with disease in related individuals. This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the GLA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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