ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.909-8T>C

dbSNP: rs1260212325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587973 SCV000696334 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing Variant summary: The MYBPC3 c.909-8T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 107442 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV001462101 SCV001666012 likely benign Hypertrophic cardiomyopathy 2017-11-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798907 SCV002042240 likely benign Cardiomyopathy 2020-05-11 criteria provided, single submitter clinical testing

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