ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.688A>G (p.Ile230Val)

gnomAD frequency: 0.00002  dbSNP: rs794727879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723755 SCV000232317 uncertain significance not provided 2014-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000723755 SCV000574163 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
Baylor Genetics RCV001333333 SCV001525885 uncertain significance Borjeson-Forssman-Lehmann syndrome 2018-07-18 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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