ClinVar Miner

Submissions for variant NM_006888.6(CALM1):c.72C>T (p.Gly24=)

gnomAD frequency: 0.00006  dbSNP: rs267607278
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620499 SCV000738115 likely benign Cardiovascular phenotype 2017-09-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000652516 SCV000774386 likely benign Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14 2024-12-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000149485 SCV005217860 likely benign not provided criteria provided, single submitter not provided
Nyegaard lab; Aarhus University RCV000149485 SCV000187716 benign not provided 2012-07-23 no assertion criteria provided research

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