ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)

dbSNP: rs1556019449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626726 SCV000747429 uncertain significance Pulmonary arterial hypertension; Bilateral cryptorchidism; Rib fusion; Horseshoe kidney; Macrocephaly; Abnormality of neuronal migration; Enlarged cisterna magna; Hypoplasia of penis 2017-01-01 criteria provided, single submitter clinical testing

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