ClinVar Miner

Submissions for variant NM_005392.4(PHF2):c.2214G>A (p.Ser738=)

gnomAD frequency: 0.01020  dbSNP: rs79708182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000956733 SCV001103512 benign not provided 2017-09-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000956733 SCV005269343 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003926050 SCV004746560 likely benign PHF2-related disorder 2019-11-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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