ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University RCV001257453 SCV001434011 likely pathogenic Ichthyosis prematurity syndrome 2020-07-07 no assertion criteria provided clinical testing

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