ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics,Yale University RCV000845199 SCV000987135 likely pathogenic Midaortic syndrome 2018-02-26 no assertion criteria provided literature only

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