ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) (rs1554107098)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621673 SCV000737005 uncertain significance Cardiovascular phenotype 2016-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764658 SCV000895782 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

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