ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)

dbSNP: rs1063110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864409 SCV001005205 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507482 SCV002803748 likely benign Medulloblastoma; Familial dysautonomia 2021-08-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000864409 SCV005224840 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275745 SCV001461190 likely benign Familial dysautonomia 2020-05-30 no assertion criteria provided clinical testing

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