ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.900C>T (p.Phe300=)

gnomAD frequency: 0.00410  dbSNP: rs35080367
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000246637 SCV000314090 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000554633 SCV000519934 benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Invitae RCV001080333 SCV000628019 benign Marinesco-Sjögren syndrome 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000554633 SCV001145638 benign not provided 2019-04-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080333 SCV001319305 benign Marinesco-Sjögren syndrome 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.
CeGaT Center for Human Genetics Tuebingen RCV000554633 SCV002821318 benign not provided 2022-10-01 criteria provided, single submitter clinical testing SIL1: BP4, BP7, BS1, BS2

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