ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7557G>A (p.Leu2519=) (rs397516957)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038089 SCV000061755 likely benign not specified 2012-09-05 criteria provided, single submitter clinical testing Leu2519Leu in exon 24 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Leu2519Leu in exon 24 of DSP (allele frequen cy = n/a)
Illumina Clinical Services Laboratory,Illumina RCV000385620 SCV000465206 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293672 SCV000465207 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318144 SCV000465208 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375127 SCV000465209 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000038089 SCV000523517 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000555571 SCV000641344 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Color RCV000777800 SCV000913792 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing

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