ClinVar Miner

Submissions for variant NM_000063.6(C2):c.1360+1G>A (rs140225293)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260406 SCV000484185 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315667 SCV000484186 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778786 SCV000915157 uncertain significance C2-related disorders 2018-10-24 criteria provided, single submitter clinical testing The C2 c.1360+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The variant is reported at a frequency of 0.000670 in the Latino population of the Genome Aggregation Database. Due to the potential impact of splice donor variants and the lack of clarifying evidence, the c.1360+1G>A variant is classified as a variant of unknown significance but suspicious for pathogenicity for C2-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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