ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3855+18C>T

gnomAD frequency: 0.00001  dbSNP: rs557015443
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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 RCV002164142 SCV002473993 benign not provided 2024-10-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486980 SCV002802325 likely benign Medulloblastoma; Familial dysautonomia 2021-08-26 criteria provided, single submitter clinical testing

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