ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1143G>A (p.Val381=)

gnomAD frequency: 0.00210  dbSNP: rs35936107
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000550635 SCV000520023 likely benign not provided 2019-09-23 criteria provided, single submitter clinical testing
Invitae RCV000550635 SCV000625997 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000550635 SCV004158542 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ELP1: BP4, BP7
Natera, Inc. RCV001833528 SCV002082138 likely benign Familial dysautonomia 2017-05-10 no assertion criteria provided clinical testing

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