ClinVar Miner

Submissions for variant NM_005184.4(CALM3):c.306C>T (p.Ser102=)

gnomAD frequency: 0.00227  dbSNP: rs146819515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456589 SCV000560785 benign Long QT syndrome 1 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000603963 SCV000722764 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446890 SCV002753721 likely benign Cardiovascular phenotype 2019-01-09 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.

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