ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3346+7G>T

gnomAD frequency: 0.00008  dbSNP: rs144631706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430439 SCV000522292 likely benign not specified 2017-11-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000867472 SCV001008702 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000867472 SCV004563900 likely benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275743 SCV001461186 uncertain significance Familial dysautonomia 2020-01-24 no assertion criteria provided clinical testing

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