ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3855+19G>A

gnomAD frequency: 0.00026  dbSNP: rs113767921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002187018 SCV002347685 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507881 SCV002808788 likely benign Medulloblastoma; Familial dysautonomia 2021-11-23 criteria provided, single submitter clinical testing

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