ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.959-10T>C

gnomAD frequency: 0.00035  dbSNP: rs144059169
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861892 SCV001002306 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271215 SCV001452212 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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