ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.654+1G>A (rs730880621)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000604711 SCV000744871 pathogenic Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604711 SCV000733066 pathogenic Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000604711 SCV000743575 pathogenic Familial hypertrophic cardiomyopathy 4 2017-07-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509271 SCV000606934 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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