ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2460C>T (p.Cys820=)

gnomAD frequency: 0.00001  dbSNP: rs181121832
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883218 SCV001026506 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487934 SCV002795857 likely benign Medulloblastoma; Familial dysautonomia 2022-04-28 criteria provided, single submitter clinical testing

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