ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2631C>T (p.Ala877=)

gnomAD frequency: 0.00791  dbSNP: rs138023874
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000466309 SCV000521484 benign not provided 2018-06-27 criteria provided, single submitter clinical testing
Invitae RCV000466309 SCV000563264 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298586 SCV002598758 benign not specified 2022-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461145 SCV002756041 likely benign Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV001828408 SCV002082070 likely benign Familial dysautonomia 2018-04-19 no assertion criteria provided clinical testing

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