ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5991G>A (p.Gly1997=) (rs538244495)

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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 RCV000249971 SCV000320050 likely benign Cardiovascular phenotype 2015-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000641851 SCV000763501 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-11-09 criteria provided, single submitter clinical testing

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