ClinVar Miner

Submissions for variant NM_194456.1(KRIT1):c.1980A>G (p.Val660=) (rs11542682)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242381 SCV000316893 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275757 SCV000470428 benign Angiokeratoma corporis diffusum with arteriovenous fistulas 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000316905 SCV000470429 benign Cerebral cavernous malformation 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283067 SCV000604084 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000316905 SCV000743181 benign Cerebral cavernous malformation 2016-03-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711046 SCV000841373 benign not provided 2017-11-24 criteria provided, single submitter clinical testing
Invitae RCV000316905 SCV001720795 benign Cerebral cavernous malformation 2020-11-27 criteria provided, single submitter clinical testing

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