ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3477C>T (p.His1159=)

gnomAD frequency: 0.00016  dbSNP: rs141257064
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869760 SCV001011215 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495290 SCV002799013 likely benign Medulloblastoma; Familial dysautonomia 2022-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825748 SCV002082020 likely benign Familial dysautonomia 2017-11-14 no assertion criteria provided clinical testing

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