ClinVar Miner

Submissions for variant NC_000002.12:g.178618858T>C

gnomAD frequency: 0.00059  dbSNP: rs182706301
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228323 SCV000286679 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001705253 SCV000515136 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621278 SCV000737271 likely benign Cardiovascular phenotype 2019-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770022 SCV000901448 likely benign Cardiomyopathy 2017-03-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840421 SCV002100651 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840422 SCV002100652 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840423 SCV002100653 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840420 SCV002100655 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000420051 SCV001923644 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001705253 SCV001962753 likely benign not provided no assertion criteria provided clinical testing

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