ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.*338del

dbSNP: rs886063045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259795 SCV000474544 uncertain significance CHARGE association 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298672 SCV000474545 uncertain significance Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing

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