ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) (rs78535378)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000126052 SCV000051300 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000154636 SCV000169542 benign not specified 2014-04-09 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154636 SCV000204310 benign not specified 2013-10-21 criteria provided, single submitter clinical testing Ser3473Asn in exon 44B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 9.1% (52/572) of Asian chromosomes b y the 1000 Genomes Project (dbSNP rs78535378).
Invitae RCV001080034 SCV000555266 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-07 criteria provided, single submitter clinical testing

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