ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2082T>A (p.Gly694=)

gnomAD frequency: 0.00003  dbSNP: rs760054484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874114 SCV001016244 likely benign not provided 2024-12-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001804025 SCV002049188 likely benign Familial dysautonomia 2021-10-04 criteria provided, single submitter clinical testing

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