ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1536C>T (p.Asp512=)

gnomAD frequency: 0.00004  dbSNP: rs751808911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001436721 SCV001639565 likely benign not provided 2023-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504720 SCV002796572 likely benign Medulloblastoma; Familial dysautonomia 2022-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831495 SCV002082126 likely benign Familial dysautonomia 2018-10-04 no assertion criteria provided clinical testing

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