ClinVar Miner

Submissions for variant NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs)

dbSNP: rs1558092113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000735851 SCV000864002 pathogenic Lymphedema-posterior choanal atresia syndrome 2019-01-04 no assertion criteria provided literature only

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