ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2826A>T (p.Arg942=)

dbSNP: rs780726202
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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 RCV000867984 SCV001009265 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507500 SCV002808258 likely benign Medulloblastoma; Familial dysautonomia 2022-01-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825735 SCV002082062 likely benign Familial dysautonomia 2020-12-29 no assertion criteria provided clinical testing

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