ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2205-7C>T

gnomAD frequency: 0.00012  dbSNP: rs148221146
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875033 SCV001017299 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501338 SCV002804221 likely benign Medulloblastoma; Familial dysautonomia 2022-05-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274120 SCV001457908 likely benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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