ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.862T>C (p.Trp288Arg)

dbSNP: rs1247223599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Uitto Lab, Thomas Jefferson University RCV000782379 SCV000920900 likely pathogenic Autosomal recessive congenital ichthyosis 1 2018-06-08 criteria provided, single submitter clinical testing

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