ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.822-35C>T

gnomAD frequency: 0.25679  dbSNP: rs41301394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pecori Giraldi Lab, University of Milan RCV001292545 SCV001432701 likely benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency criteria provided, single submitter case-control This variant is intronic
GeneDx RCV001615146 SCV001838713 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615146 SCV005220401 likely benign not provided criteria provided, single submitter not provided

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