ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.650C>T (p.Thr217Met)

gnomAD frequency: 0.00044  dbSNP: rs150348311
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727892 SCV000855398 likely benign not specified 2017-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001304883 SCV001494188 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001304883 SCV001822659 likely benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485852 SCV002799115 likely benign Chondrodysplasia punctata 2 X-linked dominant; MEND syndrome 2022-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001304883 SCV004166212 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing EBP: BS2
Ambry Genetics RCV004026936 SCV004863297 likely benign Inborn genetic diseases 2021-12-20 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.

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