ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)

gnomAD frequency: 0.00001  dbSNP: rs112178985
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002134747 SCV002413265 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486909 SCV002797274 likely benign Medulloblastoma; Familial dysautonomia 2022-04-26 criteria provided, single submitter clinical testing

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