ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.730-11T>G

gnomAD frequency: 0.00364  dbSNP: rs192977933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602057 SCV000713920 benign not specified 2018-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062158 SCV002449276 benign Borjeson-Forssman-Lehmann syndrome 2024-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714088 SCV005279562 benign not provided criteria provided, single submitter not provided

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