ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.11538G>T (p.Leu3846=)

gnomAD frequency: 0.00324  dbSNP: rs114473169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970061 SCV001117618 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029945 SCV002689561 likely benign not specified 2022-02-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003928475 SCV004744790 benign OBSCN-related disorder 2019-05-27 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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