ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr)

gnomAD frequency: 0.00006  dbSNP: rs199585352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467848 SCV000563293 likely benign Dilated cardiomyopathy 1KK 2023-12-05 criteria provided, single submitter clinical testing
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University RCV000157386 SCV003932374 uncertain significance Primary dilated cardiomyopathy 2023-06-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157386 SCV000207124 uncertain significance Primary dilated cardiomyopathy 2014-08-04 no assertion criteria provided clinical testing

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