ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.4-1726C>G (rs779791579)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000512831 SCV000218796 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388546 SCV000481356 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000168136 SCV000481357 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512831 SCV000609345 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567817 SCV000674455 likely benign Hereditary cancer-predisposing syndrome 2019-07-01 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Fulgent Genetics,Fulgent Genetics RCV000764853 SCV000896009 uncertain significance Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing

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