ClinVar Miner

Submissions for variant NM_181534.4(KRT25):c.950T>C (p.Leu317Pro) (rs766783183)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000201248 SCV000249615 pathogenic Hypotrichosis 8 2015-06-04 no assertion criteria provided research
OMIM RCV000203575 SCV000258926 pathogenic Autosomal recessive woolly hair 3 2015-10-01 no assertion criteria provided literature only

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