ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)

gnomAD frequency: 0.00005  dbSNP: rs766875245
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863751 SCV001004461 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495237 SCV002803303 likely benign Medulloblastoma; Familial dysautonomia 2021-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169104 SCV003905059 likely benign Inborn genetic diseases 2022-11-15 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.
PreventionGenetics, part of Exact Sciences RCV003918356 SCV004728073 likely benign ELP1-related condition 2020-10-16 criteria provided, single submitter 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).
Natera, Inc. RCV001271565 SCV001452824 likely benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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