ClinVar Miner

Submissions for variant NM_001378789.1(CERS3):c.1108A>G (p.Arg370Gly)

gnomAD frequency: 0.98616  dbSNP: rs2439928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578995 SCV001806378 benign Autosomal recessive congenital ichthyosis 9 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001655909 SCV001866350 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001655909 SCV002410191 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655909 SCV005291434 benign not provided criteria provided, single submitter not provided

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