ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1909-17C>G

gnomAD frequency: 0.00001  dbSNP: rs373498962
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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 RCV002106529 SCV002437422 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494375 SCV002801053 likely benign Medulloblastoma; Familial dysautonomia 2021-12-26 criteria provided, single submitter clinical testing

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