ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3714T>C (p.His1238=)

gnomAD frequency: 0.00001  dbSNP: rs749975442
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874898 SCV001017132 likely benign not provided 2023-07-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271561 SCV001452815 likely benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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