ClinVar Miner

Submissions for variant NM_021978.4(ST14):c.1223+29G>A

gnomAD frequency: 0.84758  dbSNP: rs858713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696572 SCV001916266 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810265 SCV002057177 benign Autosomal recessive congenital ichthyosis 11 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001696572 SCV005231779 benign not provided criteria provided, single submitter not provided

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