ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys)

gnomAD frequency: 0.00007  dbSNP: rs199945885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634411 SCV000755714 likely benign Borjeson-Forssman-Lehmann syndrome 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407522 SCV004114839 uncertain significance PHF6-related disorder 2022-09-01 criteria provided, single submitter clinical testing The PHF6 c.487C>T variant is predicted to result in the amino acid substitution p.Arg163Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including in 4 hemizygous individuals (http://gnomad.broadinstitute.org/variant/X-133547589-C-T). Although we suspect this variant may possibly be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000121804 SCV000086002 not provided not specified 2013-09-19 no assertion provided reference population
Clinical Genetics, Academic Medical Center RCV001729398 SCV001979072 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729398 SCV001980244 uncertain significance not provided no assertion criteria provided clinical testing

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