ClinVar Miner

Submissions for variant NM_021978.4(ST14):c.1015+40A>G

gnomAD frequency: 0.89653  dbSNP: rs610005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001675484 SCV001894082 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810220 SCV002057174 benign Autosomal recessive congenital ichthyosis 11 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675484 SCV005231772 benign not provided criteria provided, single submitter not provided

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