ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3721C>T (p.Pro1241Ser) (rs574880967)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119211 SCV000153953 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567632 SCV000674515 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-30 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764839 SCV000895995 uncertain significance Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing

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