ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.208-15G>A (rs116511484)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038847 SCV000062525 likely benign not specified 2012-04-17 criteria provided, single submitter clinical testing 208-15G>A in Intron 02 of ANKRD1: This variant is not expected to have clinical significance because it has been identified in 0.6% (24/3726) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs116511484). 208-15G>A in Intron 02 of AN KRD1 (allele frequency = 0.6%, 24/3726; dbSNP rs116511484) **
GeneDx RCV000038847 SCV000166993 benign not specified 2014-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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