ClinVar Miner

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

gnomAD frequency: 0.00077  dbSNP: rs199422321
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347889 SCV000340432 likely benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 Laboratory Services, 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 2023-12-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000862737 SCV002536475 benign Dyskeratosis congenita 2020-03-26 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003914887 SCV004731429 likely benign TINF2-related condition 2023-01-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneReviews RCV000032163 SCV000055742 not provided Dyskeratosis congenita, autosomal dominant 1 no assertion provided literature only

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