ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) (rs772381363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242599 SCV000318342 uncertain significance Cardiovascular phenotype 2013-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764661 SCV000895790 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Epidermolysis bullosa, lethal acantholytic; Skin fragility woolly hair syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 2018-10-31 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786303 SCV000925068 uncertain significance not provided 2015-12-16 no assertion criteria provided provider interpretation

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