ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.4163+20T>C

gnomAD frequency: 0.99890  dbSNP: rs7559069
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253174 SCV000316472 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544288 SCV001763299 benign Autosomal recessive congenital ichthyosis 4A 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544289 SCV001763300 benign Autosomal recessive congenital ichthyosis 4B 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001660372 SCV001873831 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001660372 SCV002401252 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660372 SCV005243784 benign not provided criteria provided, single submitter not provided

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