ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) (rs199861986)

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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 RCV000406675 SCV000406967 benign Amyotrophy, hereditary neuralgic 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genesis Genome Database RCV000857024 SCV000999594 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857025 SCV000999595 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research

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