Submissions for variant NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) (rs186234393)

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Total submissions: 11

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000249807	SCV000319715	likely benign	Cardiovascular phenotype	2015-05-19	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Co-occurence with mutation in same gene (phase unknown)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV000768859	SCV000900232	uncertain significance	Cardiomyopathy	2017-01-19	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000373149	SCV000342637	likely benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000373149	SCV000237769	likely benign	not specified	2018-02-20	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.
Illumina Clinical Services Laboratory,Illumina	RCV000338023	SCV000420823	uncertain significance	Hereditary myopathy with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000397369	SCV000420824	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000278867	SCV000420825	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000336224	SCV000420826	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000397381	SCV000420827	uncertain significance	Myopathy, early-onset, with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000315107	SCV000420828	uncertain significance	Distal myopathy Markesbery-Griggs type	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000461639	SCV000555295	likely benign	Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J	2017-04-04	criteria provided, single submitter	clinical testing

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