ClinVar Miner

Submissions for variant NM_015107.3(PHF8):c.197G>A (p.Arg66His)

dbSNP: rs1557110261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332017 SCV001524200 uncertain significance Syndromic X-linked intellectual disability Siderius type 2020-02-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003329401 SCV004036452 uncertain significance not provided 2023-03-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV003329401 SCV004702448 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing PHF8: PP2

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