ClinVar Miner

Submissions for variant NM_002840.5(PTPRF):c.5190C>A (p.His1730Gln)

gnomAD frequency: 0.00062  dbSNP: rs145235828
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986294 SCV001135240 uncertain significance Breasts and/or nipples, aplasia or hypoplasia of, 2 2019-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691315 SCV005186653 uncertain significance not provided criteria provided, single submitter not provided

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