ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.297+9C>T

gnomAD frequency: 0.00004  dbSNP: rs1028726810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197597 SCV001368376 benign 8q24.3 microdeletion syndrome 2018-10-29 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
PreventionGenetics, part of Exact Sciences RCV003945914 SCV004770266 likely benign PUF60-related disorder 2019-12-05 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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