ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.*592_*598del

dbSNP: rs199761478
Minimum review status: Collection method:
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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 RCV000277404 SCV000428559 likely benign Autosomal recessive multiple pterygium syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277404 SCV000428560 likely benign Autosomal recessive multiple pterygium syndrome 2016-06-14 criteria provided, single submitter clinical testing

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