ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2217A>G (p.Lys739=)

gnomAD frequency: 0.00038  dbSNP: rs139583037
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593304 SCV000705057 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV000593304 SCV001003615 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276229 SCV001462227 uncertain significance Familial dysautonomia 2020-01-24 no assertion criteria provided clinical testing

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