ClinVar Miner

Submissions for variant NC_000023.11:g.(?_120441710)_(120449148_?)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 RCV000638591 SCV000760123 pathogenic Danon disease 2021-04-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with LAMP2-related disease (Invitae). In at least one individual the variant was observed to be de novo. This variant is a gross deletion of the genomic region encompassing exon(s) 4-8 of the LAMP2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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