ClinVar Miner

Submissions for variant NM_201631.4(TGM5):c.640del (p.Leu214fs)

gnomAD frequency: 0.00001  dbSNP: rs606231277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989297 SCV001139562 pathogenic Peeling skin syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000144914 SCV000191916 pathogenic Acral peeling skin syndrome 2012-10-01 no assertion criteria provided literature only

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