ClinVar Miner

Submissions for variant NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) (rs267607276)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032976 SCV000056751 pathogenic Ventricular tachycardia, catecholaminergic polymorphic, 4 2012-10-05 no assertion criteria provided literature only
GeneReviews RCV000032976 SCV000147939 pathogenic Ventricular tachycardia, catecholaminergic polymorphic, 4 2014-03-06 no assertion criteria provided literature only
Nyegaard lab; Aarhus University RCV000032976 SCV000187713 pathogenic Ventricular tachycardia, catecholaminergic polymorphic, 4 2012-07-23 no assertion criteria provided research
Blueprint Genetics RCV000157133 SCV000206856 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia type 1 2014-05-05 no assertion criteria provided clinical testing

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