ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.2451C>T (p.Phe817=) (rs201576913)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000526013 SCV000411103 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000526013 SCV000638321 benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2019-12-31 criteria provided, single submitter clinical testing
Centre for Medical Genetics, Mumbai RCV000855748 SCV000965605 benign SCID, autosomal recessive, T-negative/B-positive type 2019-08-14 criteria provided, single submitter clinical testing The variant was incidentally detected in an apparently healthy individual of 20 years while performing exome sequencing for indication of previous baby with genodermatoses (icthyosis).

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