ClinVar Miner

Submissions for variant NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro)

dbSNP: rs782358977
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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 RCV001332018 SCV001524201 uncertain significance Syndromic X-linked intellectual disability Siderius type 2020-03-29 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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