ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val)

gnomAD frequency: 0.00369  dbSNP: rs142729495
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173853 SCV000225016 benign not specified 2015-01-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348270 SCV000432605 likely benign Retinitis pigmentosa 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000950082 SCV001096362 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950082 SCV004810863 benign not provided 2025-01-01 criteria provided, single submitter clinical testing SNRNP200: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000950082 SCV005259884 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000173853 SCV001920901 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000950082 SCV001972457 likely benign not provided no assertion criteria provided clinical testing

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