ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.1645G>A (p.Val549Met)

gnomAD frequency: 0.00268  dbSNP: rs147131452
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251443 SCV000313553 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388614 SCV000357113 benign SEPN1-related disorder 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001722338 SCV000534650 benign not provided 2019-07-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22426012)
Athena Diagnostics RCV000251443 SCV000615144 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525330 SCV000634406 benign Eichsfeld type congenital muscular dystrophy 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500917 SCV002806040 likely benign Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 2022-02-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722338 SCV005264042 likely benign not provided criteria provided, single submitter not provided

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