ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) (rs72624961)

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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 RCV000174020 SCV000225248 likely benign not specified 2017-08-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281510 SCV000466747 likely benign Leber congenital amaurosis 11 2018-01-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000322287 SCV000466748 likely benign Retinitis pigmentosa 2018-01-12 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.
Fulgent Genetics,Fulgent Genetics RCV000765929 SCV000897349 uncertain significance Retinitis pigmentosa 10; Leber congenital amaurosis 11 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000877998 SCV001020831 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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