ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.1923_1927+2del

dbSNP: rs398122902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000032732 SCV004203814 pathogenic Autosomal recessive congenital ichthyosis 1 2023-01-19 criteria provided, single submitter clinical testing
OMIM RCV000032732 SCV000056496 pathogenic Autosomal recessive congenital ichthyosis 1 2009-08-01 no assertion criteria provided literature only

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