ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.865-9C>T

gnomAD frequency: 0.00004  dbSNP: rs748084965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630704 SCV000751671 likely benign not provided 2023-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499034 SCV002805417 likely benign Medulloblastoma; Familial dysautonomia 2022-02-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001027951 SCV001190692 uncertain significance Familial dysautonomia 2019-05-20 no assertion criteria provided clinical testing

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