ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) (rs199422321)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000347889 SCV000340432 likely benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399248 SCV000386428 likely benign Revesz syndrome 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 RCV000303934 SCV000386429 likely benign Dyskeratosis congenita, autosomal dominant, 3 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000862737 SCV001003283 benign Dyskeratosis congenita 2019-12-31 criteria provided, single submitter clinical testing
GeneReviews RCV000032163 SCV000055742 pathologic Dyskeratosis congenita, autosomal dominant 1 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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