ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) (rs148894066)

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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 RCV000155792 SCV000205503 likely benign not specified 2014-09-04 criteria provided, single submitter clinical testing Tyr1169Tyr in exon 23 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. It has also been identified in 0.8% (3/394) of Chinese chromosomes from a broad population by the 1000 Genomes Projec (dbSNP r s148894066).
Illumina Clinical Services Laboratory,Illumina RCV000310488 SCV000464990 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358299 SCV000464991 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265470 SCV000464992 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304208 SCV000464993 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000155792 SCV000512878 likely benign not specified 2015-12-11 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 RCV000463442 SCV000555768 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-06-23 criteria provided, single submitter clinical testing
Color RCV000771827 SCV000904539 likely benign Cardiomyopathy 2018-05-11 criteria provided, single submitter clinical testing

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