ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3285+6A>T

gnomAD frequency: 0.00003  dbSNP: rs1465325866
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 RCV001861913 SCV002299375 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000699215 SCV002082034 uncertain significance Familial dysautonomia 2020-07-23 no assertion criteria provided clinical testing

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