ClinVar Miner

Submissions for variant NC_000002.11:g.(?_189839196)_(189839314_?)dup

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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 RCV000707914 SCV000837024 pathogenic Ehlers-Danlos syndrome, type 4 2019-04-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed to be de novo in an individual affected with Ehlers-Danlos syndrome (Invitae). This variant results in a copy number gain of the genomic region encompassing exon 1 of the COL3A1 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the COL3A1 gene, which includes the initiator codon. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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