ClinVar Miner

Submissions for variant NM_001927.4(DES):c.894G>A (p.Ser298=) (rs747073500)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213833 SCV000270097 likely benign not specified 2015-06-09 criteria provided, single submitter clinical testing p.Ser298Ser in exon 4 of DES: 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 been identified in 4/66372 European (No n-Finnish) chromosomes and in 1/8638 East Asian chromosomes by the Exome Aggrega tion Consortium Sequencing Project (
Invitae RCV000556100 SCV000654185 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2019-05-10 criteria provided, single submitter clinical testing

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