ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7706C>T (p.Thr2569Ile)

dbSNP: rs770464104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180843 SCV001345877 likely benign Cardiomyopathy 2020-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033055 SCV005022554 likely benign Cardiovascular phenotype 2023-10-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV005225267 SCV005865124 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-09-15 criteria provided, single submitter clinical testing

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