ClinVar Miner

Submissions for variant NM_021978.4(ST14):c.1684+38C>T

gnomAD frequency: 0.41747  dbSNP: rs11221995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001635902 SCV001848047 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810157 SCV002057178 benign Autosomal recessive congenital ichthyosis 11 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001635902 SCV005231788 benign not provided criteria provided, single submitter not provided

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