ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2011dup (p.His671fs)

dbSNP: rs1554695110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000277549 SCV000340648 pathogenic not provided 2016-04-15 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001804162 SCV002054011 pathogenic Gorlin syndrome criteria provided, single submitter clinical testing
OMIM RCV004576942 SCV000028909 pathogenic Basal cell nevus syndrome 1 1996-06-14 no assertion criteria provided literature only

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