ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met)

gnomAD frequency: 0.00001  dbSNP: rs765311079
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988258 SCV001137912 likely pathogenic Ichthyosis prematurity syndrome 2019-05-28 criteria provided, single submitter clinical testing

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