ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.288C>T (p.Ile96=) (rs758726687)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164197 SCV000214818 likely benign Hereditary cancer-predisposing syndrome 2014-12-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397947 SCV000432546 likely benign Pheochromocytoma 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 RCV000464398 SCV000555677 likely benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 2019-12-31 criteria provided, single submitter clinical testing

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