ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) (rs199422322)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000319654 SCV000386418 likely benign Dyskeratosis congenita, autosomal dominant, 3 2017-04-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000372254 SCV000386419 likely benign Revesz syndrome 2017-04-28 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 RCV000868533 SCV001009873 likely benign Dyskeratosis congenita 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989196 SCV001139423 uncertain significance Autosomal recessive congenital ichthyosis 1 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000032167 SCV000055746 pathologic Dyskeratosis congenita, autosomal dominant 1 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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