ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2072T>C (p.Phe691Ser) (rs547954117)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761085 SCV000891000 uncertain significance Hepatoblastoma 2016-06-16 no assertion criteria provided clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761185 SCV000891101 uncertain significance B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 2017-04-12 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231046 SCV000481302 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302132 SCV000481303 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231046 SCV000284327 likely benign Gorlin syndrome 2018-01-03 criteria provided, single submitter clinical testing

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