ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.958+20C>T

gnomAD frequency: 0.00004  dbSNP: rs370413742
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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 RCV002131132 SCV002455746 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494426 SCV002796455 likely benign Medulloblastoma; Familial dysautonomia 2022-01-10 criteria provided, single submitter clinical testing

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