ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.787-15G>A (rs150200872)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659440 SCV000781255 uncertain significance Ehlers-Danlos syndrome, classic type 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000124483 SCV000167916 benign not specified 2012-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000393073 SCV000478511 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586891 SCV000695403 benign not provided 2017-03-15 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.787-15G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2755/121118 control chromosomes (144 homozygotes) at a frequency of 0.0227464, which is approximately 18197 times the estimated maximal expected allele frequency of a pathogenic COL5A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
PreventionGenetics RCV000124483 SCV000302250 benign not specified criteria provided, single submitter clinical testing

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