ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1075C>T (p.Leu359=)

gnomAD frequency: 0.00018  dbSNP: rs2230789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610596 SCV000728247 likely benign not specified 2018-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000865072 SCV001005977 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274632 SCV001458962 likely benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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