ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.*2288dup

dbSNP: rs548096592
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330510 SCV000481166 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387313 SCV000481167 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing

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