ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.580C>T (p.Leu194=)

gnomAD frequency: 0.35689  dbSNP: rs1061399
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000352312 SCV000344631 benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341440 SCV000427859 benign 3M syndrome 2 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.
Invitae RCV001513547 SCV001721180 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001513547 SCV001899990 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000341440 SCV002029270 benign 3M syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000341440 SCV002804236 benign 3M syndrome 2 2022-04-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000352312 SCV001741862 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000352312 SCV001958639 benign not specified no assertion criteria provided clinical testing

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