ClinVar Miner

Submissions for variant NM_194456.1(KRIT1):c.*132T>G (rs572414111)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000304668 SCV000470420 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000364001 SCV000470421 likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000364001 SCV001006306 benign Cerebral cavernous malformation 2020-11-11 criteria provided, single submitter clinical testing
Mendelics RCV000364001 SCV001137414 benign Cerebral cavernous malformation 2019-05-28 criteria provided, single submitter clinical testing

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