ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) (rs35455790)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605065 SCV000719942 benign not specified 2017-02-13 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000053 SCV000885607 benign Familial dysautonomia 2019-05-02 criteria provided, single submitter clinical testing
Invitae RCV000757402 SCV001001380 benign not provided 2019-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276236 SCV001462238 likely benign Hereditary sensory and autonomic neuropathy 2019-12-06 no assertion criteria provided clinical testing

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