ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3932-18T>G

gnomAD frequency: 0.00004  dbSNP: rs767184876
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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 RCV002212435 SCV002360191 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498209 SCV002812518 likely benign Medulloblastoma; Familial dysautonomia 2021-11-13 criteria provided, single submitter clinical testing

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