ClinVar Miner

Submissions for variant NM_015884.4(MBTPS2):c.1237C>T (p.His413Tyr)

gnomAD frequency: 0.00051  dbSNP: rs200298161
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002216652 SCV002362415 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277008 SCV002564933 likely benign Osteogenesis imperfecta 2020-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303741 SCV004008935 likely benign Inborn genetic diseases 2023-05-24 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.
CeGaT Center for Human Genetics Tuebingen RCV002216652 SCV004166740 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MBTPS2: BS2
PreventionGenetics, part of Exact Sciences RCV003933329 SCV004760477 likely benign MBTPS2-related disorder 2021-02-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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