ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2587+10C>T

gnomAD frequency: 0.00002  dbSNP: rs771045250
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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 RCV000870121 SCV001011598 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495293 SCV002795845 likely benign Medulloblastoma; Familial dysautonomia 2022-05-03 criteria provided, single submitter clinical testing

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