ClinVar Miner

Submissions for variant NM_007198.4(PLPBP):c.52C>T (p.Arg18Trp)

gnomAD frequency: 0.00002  dbSNP: rs1341738221
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334651 SCV001527557 uncertain significance Epilepsy, early-onset, vitamin B6-dependent 2018-07-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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