ClinVar Miner

Submissions for variant NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys) (rs587781245)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Biologie Moléculaire,Centre Hospitalo-Universitaire RCV000144361 SCV000172081 likely pathogenic Palmoplantar keratoderma; Alopecia; dyschromatosis; ungueal dystrophy; spino-cellular carcinoma 2014-06-21 no assertion criteria provided case-control
OMIM RCV000766196 SCV000897627 pathogenic CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA 2015-07-01 no assertion criteria provided literature only

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