ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3636G>T (p.Pro1212=)

dbSNP: rs780520998
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 RCV000868302 SCV001009614 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275741 SCV001461180 uncertain significance Familial dysautonomia 2020-02-13 no assertion criteria provided clinical testing

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