ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1190-4G>A

gnomAD frequency: 0.00001  dbSNP: rs774965847
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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 RCV001460948 SCV001664831 likely benign not provided 2023-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495666 SCV002796875 likely benign Medulloblastoma; Familial dysautonomia 2021-11-19 criteria provided, single submitter clinical testing

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