ClinVar Miner

Submissions for variant NM_005401.5(PTPN14):c.978A>G (p.Arg326=)

gnomAD frequency: 0.82382  dbSNP: rs7550799
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001645177 SCV001855343 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796630 SCV002033304 benign Lymphedema-posterior choanal atresia syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001645177 SCV005287491 benign not provided criteria provided, single submitter not provided

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